Geneticist reveals which gene is responsible for development of endometriosis and polycystic ovaries

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Mutations in a gene that plays a key role in estrogen synthesis increase a woman’s risk of developing endometriosis and polycystic ovaries, diseases that prevent her from getting pregnant and having children normally. Geneticist and lead researcher of MyGenetics Irina Kolesnikova told socialbites.ca about this.

Polycystic ovaries and endometriosis are the most common diseases that cause infertility. The reasons for their occurrence are complex and not fully understood, but genetic characteristics increase the risk. A woman can learn to predispose to these diseases through genetic testing.

“Genetic factors are known that increase the risk of developing these unpleasant diseases, for example, variants of the CYP19A1 aromatase gene (one of the most important participants in estrogen biosynthesis) and others. But if these are taken into account and appropriate measures are taken to protect women’s health, problems can be avoided by hindering their development, ”Kolesnikova explained.

With polycystic ovaries they form benign growths – cysts. Symptoms include chronic pain, imbalance of sex hormones, depression, acne, menstrual disorders and infertility. With endometriosis, the inner lining of the uterus (endometrium) grows outside of it, causing inflammation and pain in the organs affected by the disease.

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