Secrets of genetics: what children inherit from their parents. Genetic diseases that are inherited. Medical genetic examination
Head of
"Oncogenetics"
Zhusina
Julia Gennadievna
Graduated from the Pediatric Faculty of the Voronezh State Medical University. N.N. Burdenko in 2014.
2015 - internship in therapy on the basis of the Department of Faculty Therapy of the Voronezh State Medical University. N.N. Burdenko.
2015 - certification course in the specialty "Hematology" on the basis of the Hematological Research Center in Moscow.
2015-2016 – therapist of the VGKBSMP No. 1.
2016 - the topic of the dissertation for the degree of candidate of medical sciences "study of the clinical course of the disease and prognosis in patients with chronic obstructive pulmonary disease with anemic syndrome" was approved. Co-author of more than 10 publications. Participant of scientific and practical conferences on genetics and oncology.
2017 - advanced training course on the topic: "interpretation of the results of genetic studies in patients with hereditary diseases."
Since 2017 residency in the specialty "Genetics" on the basis of RMANPO.
Head of
"Genetics"
Kanivets
Ilya Vyacheslavovich
Kanivets Ilya Vyacheslavovich, geneticist, candidate of medical sciences, head of the genetics department of the medical genetic center Genomed. Assistant of the Department of Medical Genetics of the Russian Medical Academy of Continuous Professional Education.
He graduated from the Faculty of Medicine of the Moscow State University of Medicine and Dentistry in 2009, and in 2011 he completed residency in the specialty "Genetics" at the Department of Medical Genetics of the same university. In 2017 he defended his thesis for the degree of candidate of medical sciences on the topic: Molecular diagnosis of copy number variations of DNA segments (CNVs) in children with congenital malformations, phenotype anomalies and/or mental retardation using SNP high-density oligonucleotide microarrays»
From 2011-2017 he worked as a geneticist at the Children's Clinical Hospital. N.F. Filatov, Scientific Advisory Department of the Federal State Budgetary Scientific Institution "Medical Genetic science Center". From 2014 to the present, he has been in charge of the genetics department of the MHC Genomed.
Main activities: diagnosis and management of patients with hereditary diseases and congenital malformations, epilepsy, medical genetic counseling of families in which a child was born with a hereditary pathology or malformations, prenatal diagnostics. During the consultation, an analysis of clinical data and genealogy is carried out to determine the clinical hypothesis and the required amount of genetic testing. Based on the results of the survey, the data are interpreted and the information received is explained to the consultants.
He is one of the founders of the School of Genetics project. Regularly makes presentations at conferences. He lectures for geneticists, neurologists and obstetricians-gynecologists, as well as for parents of patients with hereditary diseases. He is the author and co-author of more than 20 articles and reviews in Russian and foreign journals.
Region professional interests– introduction of modern genome-wide studies into clinical practice, interpretation of their results.
Reception time: Wed, Fri 16-19
Head of
"Neurology"
Sharkov
Artem Alekseevich
Sharkov Artyom Alekseevich– neurologist, epileptologist
In 2012, he studied international program“Oriental medicine” at Daegu Haanu University in South Korea.
Since 2012 - participation in the organization of the database and algorithm for the interpretation of xGenCloud genetic tests (http://www.xgencloud.com/, Project Manager - Igor Ugarov)
In 2013 he graduated from the Pediatric Faculty of the Russian National Research Medical University named after N.I. Pirogov.
From 2013 to 2015 he studied in clinical residency in neurology at the Federal State Budget Scientific Institution "Scientific Center of Neurology".
Since 2015, he has been working as a neurologist, researcher at the Scientific Research Clinical Institute of Pediatrics named after Academician Yu.E. Veltishchev GBOU VPO RNIMU them. N.I. Pirogov. He also works as a neurologist and a doctor in the laboratory of video-EEG monitoring in the clinics of the Center for Epileptology and Neurology named after A.I. A.A. Ghazaryan” and “Epilepsy Center”.
In 2015, he studied in Italy at the school "2nd International Residential Course on Drug Resistant Epilepsies, ILAE, 2015".
In 2015, advanced training - "Clinical and molecular genetics for practicing physicians", RCCH, RUSNANO.
In 2016, advanced training - "Fundamentals of Molecular Genetics" under the guidance of bioinformatics, Ph.D. Konovalova F.A.
Since 2016 - the head of the neurological direction of the laboratory "Genomed".
In 2016, he studied in Italy at the school "San Servolo international advanced course: Brain Exploration and Epilepsy Surger, ILAE, 2016".
In 2016, advanced training - "Innovative genetic technologies for doctors", "Institute of Laboratory Medicine".
In 2017 - the school "NGS in Medical Genetics 2017", Moscow State Scientific Center
Currently, he is conducting scientific research in the field of epilepsy genetics under the guidance of Professor, MD. Belousova E.D. and professor, d.m.s. Dadali E.L.
The topic of the dissertation for the degree of Candidate of Medical Sciences "Clinical and genetic characteristics of monogenic variants of early epileptic encephalopathies" was approved.
The main areas of activity are the diagnosis and treatment of epilepsy in children and adults. Narrow specialization - surgical treatment of epilepsy, genetics of epilepsy. Neurogenetics.
Scientific publications
Sharkov A., Sharkova I., Golovteev A., Ugarov I. “Optimization of differential diagnosis and interpretation of genetic testing results expert system XGenCloud for some forms of epilepsy". Medical Genetics, No. 4, 2015, p. 41.
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Sharkov A.A., Vorobyov A.N., Troitsky A.A., Savkina I.S., Dorofeeva M.Yu., Melikyan A.G., Golovteev A.L. "Surgery for epilepsy in multifocal brain lesions in children with tuberous sclerosis." Abstracts of the XIV Russian Congress "INNOVATIVE TECHNOLOGIES IN PEDIATRICS AND PEDIATRIC SURGERY". Russian Bulletin of Perinatology and Pediatrics, 4, 2015. - p.226-227.
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Dadali E.L., Belousova E.D., Sharkov A.A. "Molecular genetic approaches to the diagnosis of monogenic idiopathic and symptomatic epilepsy". Abstract of the XIV Russian Congress "INNOVATIVE TECHNOLOGIES IN PEDIATRICS AND PEDIATRIC SURGERY". Russian Bulletin of Perinatology and Pediatrics, 4, 2015. - p.221.
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Sharkov A.A., Dadali E.L., Sharkova I.V. "A rare variant of type 2 early epileptic encephalopathy caused by mutations in the CDKL5 gene in a male patient." Conference "Epileptology in the system of neurosciences". Collection of conference materials: / Edited by: prof. Neznanova N.G., prof. Mikhailova V.A. St. Petersburg: 2015. - p. 210-212.
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Dadali E.L., Sharkov A.A., Kanivets I.V., Gundorova P., Fominykh V.V., Sharkova I.V. Troitsky A.A., Golovteev A.L., Polyakov A.V. A new allelic variant of type 3 myoclonus epilepsy caused by mutations in the KCTD7 gene // Medical genetics.-2015.- v.14.-№9.- p.44-47
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Dadali E.L., Sharkova I.V., Sharkov A.A., Akimova I.A. "Clinical and genetic features and modern methods of diagnosing hereditary epilepsy". Collection of materials "Molecular biological technologies in medical practice" / Ed. corresponding member RANEN A.B. Maslennikova.- Issue. 24.- Novosibirsk: Academizdat, 2016.- 262: p. 52-63
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Belousova E.D., Dorofeeva M.Yu., Sharkov A.A. Epilepsy in tuberous sclerosis. In "Brain Diseases, Medical and Social Aspects" edited by Gusev E.I., Gekht A.B., Moscow; 2016; pp.391-399
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Dadali E.L., Sharkov A.A., Sharkova I.V., Kanivets I.V., Konovalov F.A., Akimova I.A. Hereditary diseases and syndromes accompanied by febrile convulsions: clinical and genetic characteristics and diagnostic methods. //Russian Journal of Children's Neurology.- T. 11.- No. 2, p. 33-41. doi: 10.17650/ 2073-8803-2016-11-2-33-41
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Sharkov A.A., Konovalov F.A., Sharkova I.V., Belousova E.D., Dadali E.L. Molecular genetic approaches to the diagnosis of epileptic encephalopathies. Collection of abstracts "VI BALTIC CONGRESS ON CHILDREN'S NEUROLOGY" / Edited by Professor Guzeva V.I. St. Petersburg, 2016, p. 391
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Hemispherotomy in drug-resistant epilepsy in children with bilateral brain damage Zubkova N.S., Altunina G.E., Zemlyansky M.Yu., Troitsky A.A., Sharkov A.A., Golovteev A.L. Collection of abstracts "VI BALTIC CONGRESS ON CHILDREN'S NEUROLOGY" / Edited by Professor Guzeva V.I. St. Petersburg, 2016, p. 157.
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Article: Genetics and differentiated treatment of early epileptic encephalopathies. A.A. Sharkov*, I.V. Sharkova, E.D. Belousova, E.L. Dadali. Journal of Neurology and Psychiatry, 9, 2016; Issue. 2doi:10.17116/jnevro20161169267-73
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Golovteev A.L., Sharkov A.A., Troitsky A.A., Altunina G.E., Zemlyansky M.Yu., Kopachev D.N., Dorofeeva M.Yu. "Surgical treatment of epilepsy in tuberous sclerosis" edited by Dorofeeva M.Yu., Moscow; 2017; p.274
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New international classifications of epilepsy and epileptic seizures of the International League against epilepsy. Journal of Neurology and Psychiatry. C.C. Korsakov. 2017. V. 117. No. 7. S. 99-106
Department head
"Genetics of predispositions",
biologist, genetic consultant
Dudurich
Vasilisa Valerievna
- Head of the Department "Genetics of predispositions", biologist, genetic consultant
In 2010 - PR-specialist, Far Eastern Institute of International Relations
In 2011 - Biologist, Far Eastern Federal University
In 2012 - FGBUN SRI FCM FMBF of Russia "Genodiagnosis in modern medicine"
In 2012 - Study "Introduction of genetic testing in a general clinic"
In 2012 - Professional training "Prenatal diagnosis and genetic passport - the basis of preventive medicine in the age of nanotechnology" D.I.
In 2013 - Professional training "Genetics in clinical hemostasiology and hemorheology" of the Bakulev Scientific Center for Cardiovascular Surgery
In 2015 - Professional training within the framework of the VII Congress of the Russian Society of Medical Genetics
In 2016 - School of Data Analysis "NGS in Medical Practice" FGBNU "MGNTS"
In 2016 - Internship "Genetic Counseling" FGBNU "MGNTS"
In 2016 - Took part in the International Congress on Human Genetics, Kyoto, Japan
From 2013-2016 - Head of the Medical Genetic Center in Khabarovsk
From 2015-2016 - Lecturer at the Department of Biology at the Far Eastern State Medical University
From 2016-2018 - Secretary of the Khabarovsk branch of the Russian Society of Medical Genetics
In 2018 – Took part in the seminar "Reproductive potential of Russia: versions and counter-versions" Sochi, Russia
Organizer of the school-seminar "The era of genetics and bioinformatics: an interdisciplinary approach in science and practice" - 2013, 2014, 2015, 2016
Experience as a genetic consultant - 7 years
Founder Charitable Foundation named after Queen Alexandra to help children with genetic pathology alixfond.ru
Area of professional interests: myrobiome, multifactorial pathology, pharmacogenetics, nutrigenetics, reproductive genetics, epigenetics.
Head of
"Prenatal Diagnosis"
Kyiv
Yulia Kirillovna
In 2011 she graduated from the Moscow State Medical and Dental University. A.I. Evdokimova with a degree in General Medicine Studied in residency at the Department of Medical Genetics of the same university with a degree in Genetics
In 2015, she completed an internship in Obstetrics and Gynecology at the Medical Institute for Postgraduate Medical Education of the Federal State Budgetary Educational Institution of Higher Professional Education "MGUPP"
Since 2013, he has been conducting a consultative appointment at the Center for Family Planning and Reproduction, DZM
Since 2017, he has been the head of the Prenatal Diagnostics department of the Genomed laboratory
Regularly makes presentations at conferences and seminars. Reads lectures for doctors of various specialties in the field of reproduction and prenatal diagnosis
Conducts medical genetic counseling for pregnant women on prenatal diagnosis in order to prevent the birth of children with birth defects development, as well as families with presumably hereditary or congenital pathology. Conducts interpretation of the obtained results of DNA diagnostics.
SPECIALISTS
Latypov
Artur Shamilevich
Latypov Artur Shamilevich – doctor geneticist of the highest qualification category.
After graduating from the medical faculty of the Kazan State Medical Institute in 1976, for many years he worked first as a doctor in the office of medical genetics, then as head of the medical genetic center of the Republican Hospital of Tatarstan, chief specialist of the Ministry of Health of the Republic of Tatarstan, teacher at the departments of Kazan Medical University.
Author of over 20 scientific works on the problems of reproductive and biochemical genetics, a participant in many domestic and international congresses and conferences on the problems of medical genetics. He introduced methods of mass screening of pregnant women and newborns for hereditary diseases into the practical work of the center, performed thousands of invasive procedures for suspected hereditary diseases of the fetus at different terms pregnancy.
Since 2012, she has been working at the Department of Medical Genetics with a course in prenatal diagnostics at the Russian Academy of Postgraduate Education.
Research interests – metabolic diseases in children, prenatal diagnostics.
Reception time: Wed 12-15, Sat 10-14Doctors are admitted by appointment.
Geneticist
Gabelko
Denis Igorevich
In 2009 he graduated from the medical faculty of KSMU named after. S. V. Kurashova (specialty "Medicine").
Internship at the St. Petersburg Medical Academy of Postgraduate Education of the Federal Agency for Health and social development(specialty "Genetics").
Internship in Therapy. Primary retraining in the specialty "Ultrasound diagnostics". Since 2016, he has been an employee of the Department of the Department of Fundamental Foundations of Clinical Medicine of the Institute of Fundamental Medicine and Biology.
Area of professional interests: prenatal diagnosis, the use of modern screening and diagnostic methods to detect genetic pathology fetus. Determining the risk of recurrence of hereditary diseases in the family.
Participant of scientific and practical conferences on genetics and obstetrics and gynecology.
Work experience 5 years.
Consultation by appointmentDoctors are admitted by appointment.
Geneticist
Grishina
Christina Alexandrovna
In 2015 she graduated from the Moscow State Medical and Dental University with a degree in General Medicine. In the same year, she entered residency in the specialty 30.08.30 "Genetics" at the Federal State Budgetary Scientific Institution "Medical Genetic Research Center".
She was hired in the Laboratory of Molecular Genetics of Complexly Inherited Diseases (Head - Doctor of Biological Sciences Karpukhin A.V.) in March 2015 as a research laboratory assistant. From September 2015 she was transferred to the position researcher. He is the author and co-author of more than 10 articles and abstracts on clinical genetics, oncogenetics and molecular oncology in Russian and foreign journals. Regular participant of conferences on medical genetics.
Area of scientific and practical interests: medical genetic counseling of patients with hereditary syndromic and multifactorial pathology.
Consultation with a geneticist allows you to answer the following questions:
Are the child's symptoms signs of a hereditary disease?
what research is needed to identify the cause
definition accurate forecast
recommendations for conducting and evaluating the results of prenatal diagnosis
everything you need to know about family planning
IVF planning consultation
field and online consultations
Geneticist
Gorgisheli
Ketevan Vazhaevna
She is a graduate of the Faculty of Medicine and Biology of the Russian National Research Medical University named after N.I. Pirogov in 2015, defended her thesis on the topic "Clinical and morphological correlation of vital indicators of the state of the body and morphological and functional characteristics of blood mononuclear cells in severe poisoning." She graduated from clinical residency in the specialty "Genetics" at the Department of Molecular and Cellular Genetics of the aforementioned university.
took part in the scientific-practical school "Innovative genetic technologies for doctors: application in clinical practice", conferences of the European Society of Human Genetics (ESHG) and other conferences dedicated to human genetics.
Provides medical genetic counseling for families with suspected hereditary or congenital pathologies, including monogenic diseases and chromosomal abnormalities, determines the indications for laboratory genetic studies, interprets the results of DNA diagnostics. Advises pregnant women on prenatal diagnostics in order to prevent the birth of children with congenital malformations.
Geneticist, obstetrician-gynecologist, candidate of medical sciences
Kudryavtseva
Elena Vladimirovna
Geneticist, obstetrician-gynecologist, candidate of medical sciences.
Specialist in the field of reproductive counseling and hereditary pathology.
Graduated from the Ural State Medical Academy in 2005.
Residency in Obstetrics and Gynecology
Internship in the specialty "Genetics"
Professional retraining in the specialty "Ultrasound diagnostics"
Activities:
- Infertility and miscarriage Vasilisa Yurievna
She is a graduate of the Nizhny Novgorod State Medical Academy, Faculty of Medicine (specialty "Medicine"). She graduated from the clinical internship of the FBGNU "MGNTS" with a degree in "Genetics". In 2014, she completed an internship at the clinic of motherhood and childhood (IRCCS materno infantile Burlo Garofolo, Trieste, Italy).
Since 2016, she has been working as a consultant doctor at Genomed LLC.
Regularly participates in scientific and practical conferences on genetics.
Main activities: Consulting on clinical and laboratory diagnostics genetic diseases and interpretation of results. Management of patients and their families with suspected hereditary pathology. Consulting when planning a pregnancy, as well as during pregnancy on prenatal diagnostics in order to prevent the birth of children with congenital pathology.
In the period from 2013 to 2014, she worked as a junior researcher at the Laboratory of Molecular Oncology of the Rostov Cancer Research Institute.
In 2013 - advanced training "Topical issues of clinical genetics", State Budgetary Educational Institution of Higher Professional Education Rost State Medical University of the Ministry of Health of Russia.
In 2014 - advanced training "Application of the real-time PCR method for gene diagnostics of somatic mutations", FBSI "Central Research Institute of Epidemiology of Rospotrebnadzor".
Since 2014 – geneticist at the Laboratory of Medical Genetics, Rostov State Medical University.
In 2015, she successfully confirmed the qualification of "Medical Laboratory Scientist". He is an active member of the Australian Institute of Medical Scientist.
In 2017 - advanced training "Interpretation of the results of genetic studies in patients with hereditary diseases", NOCHUDPO "Training Center for Continuing Medical and Pharmaceutical Education"; "Actual Issues of Clinical Laboratory Diagnostics and Laboratory Genetics", Federal Budgetary Educational Institution of Higher Education of Rostov State Medical University of the Ministry of Health of Russia; advanced training "BRCA Liverpool Genetic Counseling Course", Liverpool University.
Regularly participates in scientific conferences, is the author and co-author of more than 20 scientific publications in domestic and foreign publications.
Main activity: clinical and laboratory interpretation of the results of DNA diagnostics, chromosomal microarray analysis, NGS.
Area of interest: application of the latest genome-wide diagnostic methods in clinical practice, oncogenetics.
Genetics is a science not only interesting, but also convenient. Researches of scientists have proved that a lot of things in us do not depend on us, but are inherited. Genes, there's nothing you can do.
dominant and recessive
It's no secret that our appearance is made up of a number of traits that are determined by heredity. You can talk about the color of the skin, hair, eyes, height, physique, and so on.
Most genes have two or more variations, called alleles. They can be dominant and recessive.
Complete dominance of one allele is extremely rare, including due to the indirect influence of other genes. Also on appearance the baby is affected by multiple allelism observed in a number of genes.
Therefore, scientists only talk about a higher probability of the appearance in children of external signs caused by the dominant alleles of the parents, but nothing more.
For example, dark color hair is dominant over light. If both parents are black or Brown hair, then the child will be dark-haired.
Exceptions are possible in rare cases if there were, for example, blonds in the family from both parents. If both parents are owners of blond hair, then the likelihood that the baby will be a brunette increases. Curly hair are more likely to be inherited because they are dominant. As for eye color, dark colors are also strong: black, brown, dark green.
Such features of appearance as dimples on the cheeks or chin dominate. In a union where at least one partner has dimples, they are likely to be passed on to the younger generation. Almost all prominent features of appearance are strong. It can be a big, long nose or a hump on it, protruding ears, thick eyebrows, plump lips.
Will the girl be obedient?
Whether a daughter will become a neat girl who loves dolls, or will grow up like a boy, playing “Cossack robbers”, is largely determined by maternal instinct, which, as it turned out, depends on two genes.
Research conducted by the Human Genom Organization (HUGO) shocked the scientific community when they presented evidence that motherhood is transmitted exclusively through male line. That is why scientists argue that, according to the behavioral model, girls are more likely to be like paternal grandmothers than like birth mothers.
Inherited aggressiveness
Russian scientists in the Human Genome project were tasked with determining whether aggressiveness, irritability, activity and sociability are genetically inherited traits, or are formed in the process of upbringing. We studied the behavior of twin children aged 7 to 12 months and their genetic relationship with the type of behavior of their parents.
It turned out that the first three traits of temperament are hereditary in nature, but sociability is 90% formed in a social environment. For example, if one of the parents is prone to aggression, then with a probability of 94% this will happen again in the baby.
Alpine genes
Genetics can explain not only external signs, but even national characteristics different peoples. So, in the Sherpa genome there is an allele of the EPAS1 gene, which increases the presence of hemoglobin in the blood, which explains their adaptability to life in high mountain conditions. No other nation has this adaptation, but exactly the same allele was found in the genome of Denisovans - people who are neither Neanderthals nor Homo Sapiens. Probably, many millennia ago, Denisovans interbred with the common ancestors of the Chinese and Sherpas. Subsequently, the Chinese living on the plains lost this allele as unnecessary, while the Sherpas retained it.
Genes, sulfur and sweat
Genes are even responsible for how much a person sweats, and what kind of earwax he has. There are two versions of the ABCC11 gene that are common in the human population. Those of us who have at least one of two copies of the dominant version of the gene produce liquid earwax, while those of us who have two copies of the recessive version have solid earwax. Also, the ABCC11 gene is responsible for the production of proteins that remove sweat from the pores in the armpits. People with hard earwax don't sweat like that, so they don't have odor problems or need to wear deodorant all the time.
sleep gene
Dream ordinary person is 7-8 hours a day, however, if there is a mutation in the hDEC2 gene that regulates the sleep-wake cycle, the need for sleep can be reduced to 4 hours. Carriers of this mutation often achieve more in life and career due to extra time.
speech gene
The FOXP2 gene plays in humans important role in the formation of the speech apparatus. When this was found out, geneticists conducted an experiment to introduce the FOXP2 gene into chimpanzees, in the hope that the monkey would speak. But nothing of the kind happened - the zone responsible for the functions of speech in humans, in chimpanzees, regulates the vestibular apparatus. The ability to climb trees in the course of evolution for the monkey turned out to be much more important than the development of verbal communication skills.
happiness gene
For the past decade, genetics has been struggling with proof that for happy life appropriate genes are needed, or rather, the so-called 5-HTTLPR gene, which is responsible for the transport of serotonin (the “hormone of happiness”).
In the last century, this theory would have been considered crazy, but today, when the genes responsible for baldness, longevity or falling in love have already been discovered, nothing seems impossible anymore.
To prove their hypothesis, scientists at the London Medical School and School of Economics interviewed several thousand people. As a result, volunteers who had two copies of the happiness gene from both parents turned out to be optimistic and not prone to any kind of depression people. The results of the study were published by Jan-Emmanuel de Neve in the Journal of Human Genetics. At the same time, the scientist stressed that other “happy genes” could soon be found.
However, if for some reason you for a long time holding on Bad mood, you should not rely too much on your body and blame mother nature for "depriving you of happiness." Scientists argue that human happiness depends on many factors: “If you are unlucky, you lost your job or broke up with loved ones, then this will be a much stronger source of unhappiness, no matter how many genes you have,” said de Neve.
Genes and diseases
Genes also influence which diseases a person may be prone to. In total, about 3500 have been described to date, and for half of them a specific culprit gene has been established, its structure, types of disorders and mutations are known.
Longevity
The longevity gene was discovered by scientists at Harvard Medical School in Massachusetts back in 2001. The longevity gene is actually a sequence of 10 genes that may hold the secret to a long life.
During the implementation of the project, the genes of 137 100-year-old people, their brothers and sisters aged 91 to 109 were studied. All subjects found "chromosome 4", and scientists believe that it contains up to 10 genes that affect health and life expectancy.
These genes, scientists believe, allow their carriers to successfully fight cancer, heart disease and dementia, and some other diseases.
figure type
Genes are also responsible for the type of figure. Thus, a tendency to obesity often occurs in people who have a defect in the FTO gene. This gene disrupts the balance of the "hunger hormone" ghrelin, which leads to a violation of appetite and an innate desire to eat more than necessary. Understanding this process gives hope for the creation of a drug that reduces the concentration of ghrelin in the body.
eye color
It is traditionally believed that eye color is determined by heredity. Behind light eyes mutation in the OCA2 gene. For blue or green color the EYCL1 gene of chromosome 19 responds; for brown - EYCL2; for brown or blue - EYCL3 chromosome 15. In addition, the OCA2, SLC24A4, TYR genes are associated with eye color.
As early as the end of the 19th century, there was a hypothesis that human ancestors had exclusively dark eyes. Hans Eiberg, a contemporary Danish scientist at the University of Copenhagen, has carried out scientific studies confirming and developing this idea. According to research results, responsible for light shades eye gene OCA2, mutations of which disable the standard color, appeared only in the Mesolithic period (10000-6000 BC). Hans has been collecting evidence since 1996 and concluded that OCA2 regulates the production of melanin in the body, and any changes in the gene reduce this ability and disrupt its functioning, making the eyes blue.
The professor also claims that all the blue-eyed inhabitants of the Earth have common ancestors, tk. this gene is inherited. However different forms of the same gene, alleles, are always in a state competition, and the darker color always "wins", as a result of which parents with blue and brown eyes children will be brown-eyed, and only a blue-eyed couple can have a baby with eyes of cold shades.
Blood type
The blood type of the unborn baby is the most predictable of all hereditary traits. Everything is quite simple. Knowing the blood type of the parents, you can tell what it will be in the child. So, if both partners have 1 blood type, then their baby will have a similar one. With the interaction of 1 and 2, 2 and 2 blood groups, children can inherit one of these two options. Absolutely any blood type is possible in a child whose parents are 2 and 3 groups.
In countries where the system of early detection of dementia is developed, every fourth person over the age of 55 has a close relative with this diagnosis. Therefore, the question of the hereditary nature of dementia is very relevant today. This is one of the most common questions that caring relatives ask the doctor. Anyone who has encountered this disease in their family is interested in whether it can be inherited and what is the probability of transmission from parents to children.
Genetics is one of the most rapidly developing sciences of the 21st century. Therefore, every year scientists are moving further and further in obtaining an answer to this question. Experts confirm that genes - DNA fragments through which parents pass on hereditary traits to their children - can play a significant role in the development of dementia, but emphasize that in most cases the effect of genes is not direct, but indirect. In fact, hereditary predisposition is only part of a motley mosaic of dozens of factors leading to the development of impaired memory and thinking. They can ask increased likelihood launching negative processes, however, parallel correction of other factors (for example, a healthy lifestyle: physical activity, rational nutrition, refusal to bad habits) can neutralize this effect. But first things first.
What is a gene?
Genes are fragments of DNA that contain instructions for our body: how it should develop and how to maintain its existence. Such instructions can be found in almost every cell in our body. Usually each person carries two copies of each gene (from the mother and from the father), packed into paired structures - chromosomes.
Modern science has about 20,000 genes. In general, the genes of all people are similar, and therefore our bodies are arranged in approximately the same way and work in a similar way. At the same time, each organism is unique, and genes are also responsible for this, or rather, the slight differences that can be found between them.
The differences are of two kinds. The first type is called variation. Variants are varieties of genes that do not contain defects or other anomalies. They differ in some nuances that play a role in how our body works, but do not lead to pathological deviations in this work. The probability of developing a particular disease may depend on them, but their influence is not decisive. The second kind is called a mutation. The impact of the mutation is more significant and can be harmful to the body. In some cases, a particular characteristic of an organism can be caused by a mutation in a single gene. An example of this is Huntington's disease. A person who inherits a mutated version of the gene responsible for Huntington's disease is doomed to develop this disease at a certain age.
Both paths can lead to dementia.
Very rarely there are cases of direct inheritance of a gene mutation leading to the development of dementia. More often the disease is determined complex combination hereditary factors among themselves and with the conditions of the environment / lifestyle of a person. One way or another, the gene factor always plays a role in dementia of any origin. There are genetic variants that influence our predisposition to cardiovascular diseases or to metabolic disorders, and through this indirectly increase the risk of developing dementia. However, these predispositions may not manifest themselves if their carrier leads a healthy lifestyle and is not exposed to negative impact external environment.
Contrary to popular belief, the influence of genes on the development of dementia is not decisive.
Now, from general words, let's turn to the most common causes of dementia and see how each of them is related to heredity. Causes include Alzheimer's disease, cerebral circulation, diffuse Lewy body disease, and lobar frontotemporal degeneration.
Alzheimer's disease
Apparently, the genetics of Alzheimer's disease, the most common cause of dementia, is currently the most thoroughly studied. Predisposition to this disease can be inherited in both ways: monogenic (through a single mutated gene) or polygenic (through a complex combination of variants).
Familial form of Alzheimer's disease
Cases of a monogenic variant of Alzheimer's disease are very rare. Today, there are less than a thousand families in the world in which the disease is transmitted from parents to children. If one of the parents is a carrier of the mutated gene, each of his children will have a 50% chance of inheriting this gene. In this case external symptoms Alzheimer's disease, as a rule, begins to develop quite early: already after 30 years (recall that non-hereditary forms usually make themselves felt no earlier than 65 years).
The familial form of Alzheimer's disease is usually associated with a mutation in one of three genes: the amyloid precursor protein (APP) gene and two presenilin genes (PSEN-1 and PSEN-2). Of these three, the most common (approximately 80% of all reported cases) is a presenilin-1 gene mutation on chromosome 14 (more than 450 families). Symptoms in this case appear already at the age of 30 years. The second most common mutation is in the APP gene on chromosome 21 (about 100 families). This mutation directly affects the production of beta-amyloid, a protein whose deposits scientists believe to be a major factor in the development of Alzheimer's disease. About 30 families worldwide have a mutation in the PSEN-2 gene on chromosome 1, causing familial Alzheimer's disease, which may begin later than for PSEN-1.
There are two points to note here. First, scientists may not be aware of all cases family options Alzheimer's disease due to the fact that there are still many corners of the world where science and the health care system are underdeveloped. Secondly, in several families with clear signs family form Alzheimer's disease, none of these mutations was found, which suggests the existence of other mutations not yet known to scientists. Thirdly, even when Alzheimer's disease begins very early, at the age of 30, it may not be a form with a family pattern of inheritance. For this age, the probability of a familial form is approximately 10%, while on average, the familial form accounts for less than 1%.
Genes that increase the risk of developing Alzheimer's disease
The vast majority of people with Alzheimer's disease inherit it from their parents in a very different way - through a complex combination of different variants of many genes. This can be figuratively compared with bizarre patterns in a kaleidoscope, with each turn appears new drawing. Therefore, the disease can skip a generation, or appear as if from nowhere, or not be transmitted at all.
Currently, scientists have identified more than 20 gene variants (or DNA fragments) that, to one degree or another, affect the chances of getting Alzheimer's disease. Unlike mutated genes in the familial form, all of these variants do not rigidly cause the development of Alzheimer's disease, but only slightly increase or decrease the risk. Everything will depend on their interaction with other genes, as well as factors such as age, conditions environment, Lifestyle. As already noted, the polygenic form usually manifests itself already in old age, after 65 years.
The best known and most studied gene that increases the risk of developing Alzheimer's disease is called apolipoprotein E (APOE). This gene is found on chromosome 19. The eponymous APOE protein plays a role in the processing of fats in the body, including cholesterol. The APOE gene exists in three variants, denoted by the Greek letter epsilon (e): APOE e2, APOE e3, and APOE e4. Since each of us is a carrier of a pair of APOE genes, six different combinations are possible here: e2/e2, e2/e3, e3/e3, e2/e4, e3/e4 or e4/e4. The risk depends on which combination fell to us.
The most unfavorable option is the carriage of two variants of APOE e4 at once (one from each parent). Scientists believe that this combination occurs in approximately 2% of the world's population. The increase in risk is about 4 times (according to some sources - 12), but believe me - this is far from a 100% probability. For those who inherited only one copy of e4 in combination with another variant (about a quarter of all people), the risk of developing Alzheimer's disease increases by about 2 times. The first symptoms in carriers of the e4 gene may appear before the age of 65.
The most common combination is two e3 genes (60% of all people). In this case, scientists estimate the risk as medium. Approximately one in four carriers of this combination will suffer from Alzheimer's disease if they live to be 80 years old.
Carriers of the e2 variant have the lowest risk (11% inherit one copy and only half a percent inherit two.
Data for Russia became known recently, after the publication of the results of a study conducted by the medical genetic center Genotek. For the study, the results of DNA tests conducted from November 1, 2016 to July 1, 2017 were used for men and women aged 18 to 60 years (the total number of studies was 2.5 thousand). Thus, 75% of Russians had a neutral e3/e3 genotype, which is not associated with an increased or decreased risk of developing Alzheimer's disease. 20% of Russians have the e3 / e4 and e2 / e4 genotypes of the APOE gene, which increase the likelihood of developing the disease by five times, and 3% of Russians have the e4 / e4 genotype, which increases this probability by 12 times. Finally, the e2/e2 genotype, associated with a reduced risk of developing Alzheimer's disease, was found in 2% of the lucky ones.
For a long time, scientists did not associate the likelihood of developing Alzheimer's disease with a late onset with any other genes, except for APOE. However, in recent years, thanks to the rapid development of genetics, several more genes have been discovered whose variants are associated with an increased or decreased risk of developing Alzheimer's disease. Their influence on the development of Alzheimer's disease is even lower than that of APOE, and their names will not say anything to a wide audience, but we will list them anyway: CLU, CR1, PICALM, BIN1, ABCA7, MS4A, CD33, EPHA1 and CD2AP. They play a role in the wearer's tendency to develop inflammation, problems immune system, fat metabolism, and through this affect the chances of developing symptoms of Alzheimer's disease. The researchers themselves believe that this list can be significantly expanded in the future.
Thus, if one of your family members (grandfather, grandmother, father, mother, brother or sister) has been diagnosed with late-onset Alzheimer's disease, you are slightly more likely to develop the disease than someone with no family history of Alzheimer's disease. The increase in the overall risk in this case is insignificant, and it can be compensated in a healthy way life. The risk is slightly higher when both parents have Alzheimer's disease. In this case, the risk of developing Alzheimer's disease after age 70 would be approximately 40% (Jayadev et al. 2008).
Vascular dementia
Cerebral circulation disorders are the second most common cause of dementia.
Familial vascular dementia
As with Alzheimer's disease, vascular dementia caused by a gene mutation is extremely rare. These include, for example, autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, which occurs when a mutation occurs in a gene called NOTCH3.
Genes that increase the risk of developing vascular dementia
First, some studies have shown that modification of the APOE e4 gene may increase the risk of developing vascular dementia, but this risk is lower than for Alzheimer's disease. Whether carrying APOE e2 lowers the risk is not yet clear.
Secondly, scientists have identified several genes that influence the patient's tendency to high cholesterol, elevated blood pressure or type 2 diabetes. Each of these conditions can be a factor in the development of mucosal dementia in old age. A family history of stroke or heart disease can also increase the risk, but in general, genes play a much smaller role in the development of vascular dementia than in the development of Alzheimer's disease. For cerebrovascular dementia, lifestyle plays a more important role, in particular diet and exercise.
Frontotemporal dementia (FTD)
In the genesis of frontotemporal dementia - especially its behavioral form (less often semantic) - genes play the most prominent role.
Familial frontotemporal dementia
About 10-15% of people with FTD have a strong family history - having at least three relatives with the same disease in the next two generations. About the same number (about 15%) have a less pronounced history, perhaps even with a different type of dementia. About 30% of all cases of FTD are due to a mutation in a single gene, and at least eight such genes are known, including very rare mutations.
Three mutated genes are the most common cause of FTD: C9ORF72, MAPT, and GRN. There are certain differences in how they manifest themselves. For example, C9ORF72 causes not only FTD, but also motor neuron disease.
As in familial cases of Alzheimer's disease, the probability of inheriting a defective gene from one of the parents is 50%, and in the case of inheritance, the probability of developing the disease is 100% (the exception is the C9ORF72 gene, for reasons that are not clear to science, the disease does not always develop with its inheritance).
Genes that increase the risk of developing FTD
Although the main attention of scientists is focused on monogenic cases of FTD, in recent years there has been a search for polygenic variants. In particular, a gene called TMEM106B was discovered, whose variants indirectly affect the likelihood of developing the disease.
Dementia with Lewy bodies
The genetics of Lewy body dementia (LBD) is one of the least studied topics. Some authors of the few studies cautiously suggest that the presence of a patient with LTD among the next of kin may slightly increase the risk of developing this type of dementia, but it is too early to draw final conclusions.
Familial cases of dementia with Lewy bodies
Such cases are known to science. In several families, a rigid inheritance pattern has been identified, but the mutation of the gene responsible for this pattern has not yet been identified.
Genes that increase the risk of developing LTD
The APOE e4 variant is thought to be the strongest genetic risk factor for LTD, as it is for Alzheimer's disease. Variants of two other genes, glucocerebrosidase (GBA) and alpha-synuclein (SNCA), also affect the risk of developing LBD. Alpha-synuclein is the main protein in Lewy bodies. The GBA and SNCA genes are also risk factors for Parkinson's disease. Diffuse Lewy body disease, Alzheimer's disease and Parkinson's disease have common features - both in terms of pathological processes as well as in terms of symptoms.
Other reasons
Less common causes of dementia with a strong genetic component include Down's syndrome and Huntington's disease.
Huntington's disease refers to an inherited disease caused by a mutation in the HTT gene on chromosome 4. Symptoms of Huntington's disease include cognitive impairment that can reach the degree of dementia.
Approximately one in two people with Down syndrome who lives to age 60 develops Alzheimer's disease. The increased risk is due to the fact that most patients have an extra copy of chromosome 21, which means an extra copy of the amyloid precursor protein gene found on that chromosome. This gene is associated with the risk of developing Alzheimer's disease.
Is genetic testing worth it?
Most doctors do not recommend. If we talk about polygenic inheritance (as the most common), then of all the genes, only APOE ε 4 significantly increases the risk of developing dementia (up to 15 times in the homozygous variant), but even if you are very unlucky and this particular variant is identified, the prediction accuracy will be too far from 100%. The opposite is also true: if the gene is not found, this does not guarantee against the development of the disease. Testing, therefore, does not allow making predictions with the required level of certainty.
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If you hear a statement like “You are all / all in your mother” addressed to you, then know that this is a deliberately false statement. In fact, we (especially women) are more like our fathers than our mothers. In addition, there is an assumption that the lifestyle of the father until the moment of conception of the child, his nutrition and well-being lay the foundation for the health of the unborn baby. About what signs are transmitted to the child from the father, and which ones from the mother, read in this article.
Most often, children inherit from their parents the shape of the tip of the nose, the area around the lips, the size of the cheekbones, the corners of the eyes and the shape of the chin. In face recognition, these areas are key, so people with the same areas seem to us strikingly similar and even identical.
But the area between the eyebrows often differs between parents and their children.
Reese Witherspoon's daughter inherited from her mother Blue eyes, the shape of the cheekbones, chin and tip of the nose.
- If both parents have curly hair, then the child will have curls.
- If mom and dad have straight hair, then the baby will have straight hair.
- If one of the parents has curls and the other has straight hair, then their child will have wavy hair.
However, if both parents have curls, and in the family they had people with straight hair, then it may happen that the child will have straight hair.
Bonus: How to Predict What Your Baby Will Look Like
look family photos both parents. Pay attention to what features are invariably repeated in most relatives (hooked nose, curly hair, dark eye color). These traits are dominant, and it is highly likely that your unborn child will also have them.
Which parent do you look like? Maybe your child surprised you with an unexpected eye color or curly hair? Tell us about it.
The life of each person begins with the fusion of two germ cells, maternal and paternal gametes containing chromosomes. Chromosomes carry genes, and each of them is its own set, they are redistributed randomly, forming new combinations. So we get different from each other!
A modern American researcher, one of the leading experts in the field of behavioral genetics, Robert Plomin, claims that each of us is a unique genetic experiment that will never be repeated. Even the chance that children of the same parents will get the same set of genes is one chance in 64 trillion possibilities. The exception is twins, but even there there is no one hundred percent match in the genetic set.
Not so long ago, there was an opinion that maternal line health is transmitted, and according to the paternal - intelligence, but the inquisitive minds of scientists did not stop at research. And here are some interesting conclusions they got: it is proved that among women the average level of intelligence prevails, and among men there are often deviations in both directions. Why is this happening?
It turns out that scientists conducted the first large-scale genetic research on this account, they came to the conclusion that the power of the intellect is inherited through the line of the mother, and not the father, as previously thought.
SO THE GENDER STEREOTYPES THAT EXISTED FOR LONG CENTURIES NOW HAVE TO DISAPPEAR.
It is the mother's genes, as it turns out, that are directly responsible for the development of the cerebral cortex, and the father's - for the development of the limbic system. In other words, you took intellect from your mother, and your typical emotional state from your father.
Moreover, some other studies have shown that people inherit their mother's intelligence because intelligence genes are located on the X chromosome.
The genes that “transmit” the gifts of intelligence by inheritance are located on the X chromosomes. Women have two such chromosomes (XX), and men have only one (XY), so the genes responsible for intelligence are more active in women, and a genius dad can pass on his high IQ to his daughter, but not to his son.
Intelligence is transmitted along the X chromosome. If a daughter is born, then the intellect from the genius-father will definitely be transferred to her genes along with the same X chromosome that determines her gender. After all, she will have two X chromosomes: one is paternal, and the second is one of the maternal. Therefore, the sons who have shown remarkable abilities and talents are only obliged to their mother for this gift!
But there are other factors
Recently, researchers at the University of Ulm in Germany found that genetics is not the only reason developed intellect. Whether you are smart or not is also influenced by other factors.
Chief such additional factor - the degree of attachment to the mother, especially before the age of two. Children who regularly played complex games with them that required character recognition later grew up to be smarter adults than most of their peers.
The second factor is love. If the emotional needs of children under the age of 13 were almost completely met, 10% more cells formed in their hippocampus than those who were emotionally distant from their mother.
