Cognitive genetics

5 genetic tests that every woman should take

Vladimir Taktarov, Professor, MD, Geneticist of the Eurasian Clinic EA Clinic

TOPBEAUTY

If you believe the advertisements of medical and paramedical centers, then nowadays with the help of genetic tests you can find out everything about yourself – from the nationality and place of birth of great-grandmothers and great-grandfathers, to the most suitable profession and even the optimal type of personality of a life partner. Of course, this is far from the case. What are the real possibilities of modern human genetics?

Someone has aptly and not without wit divided this sphere of scientific and applied activity into three subspecies: fundamental genetics, entertaining genetics and cognitive genetics.

The fundamental one is constantly developing and improving, but it is not clear to an ordinary person. Doctors need it for practical work with hereditary diseases, patients and their families.

Entertainment genetics offers a wide range of services – from frankly quack, like the selection of a future profession by fingerprints, to very expensive molecular genetic tests. And what: I paid, handed over the biomaterial and it's done – information about predisposition to more than 150 diseases is given out on hand… That's only then you still need to contact doctors in specialized specialties.

The main problem is the interpretation of the results of such analyses. Most often, they test predisposition genes for so-called multifactorial diseases (hypertension, diabetes mellitus, atherosclerosis, various types of tumors, etc.).

But cognitive genetics can be really irreplaceable. What tests should every young woman take?

Test #1

First of all, it is worth checking for a factor V mutation (Leyden mutation, resistance to protein C). This factor is a protein that is responsible for the blood clotting process, and its defect causes an increased risk of thrombosis (thrombophilia), which significantly complicates the course of pregnancy and childbirth. According to some authors, it occurs in almost every 5-6 women in Moscow.

Test #2

It is necessary to pass a test for a mutation of the PAI-1 hemostasis (blood clotting) gene or a type 1 plasminogen activator inhibitor. This protein with a tricky name in the case of a defect also disrupts the blood clotting process (if its gene is changed). Carriers of such a mutation are often infertile, or suffer from miscarriage. By the way, vascular "stars" on the legs are also the merit of the mutation of this gene – the usual removal of the defect with the help of a cosmetic laser is ineffective in this case.

Test #3

Polymorphism of the genes of the so-called folate cycle MTRR and MTHFR or the folic acid cycle (vitamin B9) can also be tested. Carriers of the defective gene from this group not only suffer from anemia and diseases of the gastrointestinal tract and nervous system, but also have an increased risk of fetal malformations during pregnancy, especially when taking certain medications and alcohol.

The above tests are practically mandatory when selecting oral contraceptives (OK). A combination of factors such as smoking, overweight, problems with veins, high cholesterol and mutations of these genes can be deadly with hormonal contraception.

Women carrying defective genes have an increased risk of developing malignant tumors in the pre- or postmenopausal period. But it is necessary to test not for individual "points" of the gene, as is done in most commercial centers in Russia, but to decipher the entire gene, since in most cases each mutation is unique.

The main problem is the lack of developed tactics in detecting mutations at the preclinical stage, when breast or ovarian cancer does not manifest itself in any way – the sad story with Angelina Jolie illustrates this well.

Test No. 5

And finally, you need to test the mutation of the procollagen 1 or COL1A1 protein gene. Its carriers have a significantly increased risk of developing severe forms of osteoporosis (loss of bone mass) in menopause. Dental problems are common in women at a younger age, for example, severe forms of periodontitis. Up to 28 types of collagen protein are isolated in different tissues of the body, so its mutations are responsible for a wide range of problems in carriers - from premature skin aging to posture disorders and myopia, so this topic is fashionable and rapidly developing in modern medical genetics.

Portal "Eternal youth" http://vechnayamolodost.ru  22.12.2016