Genetic Basis Discovered [of Endometriosis]

2023 Author: Abraham Higgins | [email protected]. Last modified: 2023-05-30 04:59

American researchers have discovered a genetic mutation that significantly increases the risk of developing endometriosis. It affects the KRAS gene, which is involved in the transmission of many signals in biological tissues, which not only improves understanding of the mechanisms of disease that are still poorly understood, but also opens the way to the development of screening and treatment methods.

Possible localization of endometriosis. Illustration from wikipedia.org /

American researchers have discovered a genetic mutation that significantly increases the risk of developing endometriosis, Medical Xpress reports. This not only improves understanding of the mechanisms of the disease that are still poorly understood, but also opens the way for the development of screening and treatment methods.

The results are published in the online version of the EMBO Molecular Medicine journal.

Endometriosis is a common disease (occurs in 5-15 percent of women of childbearing age, or about 17 million people), in which the uterine epithelium (endometrium) appears and grows in areas of the body that are not typical for it (cervix, ovaries, navel, intestines, etc.). This leads to pain and inflammation in the relevant areas, and is also fraught with infertility.

The study, conducted by Yale University staff, involved 132 women with endometriosis. All study participants were tested for a mutant variant of the KRAS gene. This gene encodes a protein from the GTPase family, which is involved in the transmission of many signals in biological tissues. Its over-activation has previously been shown to cause endometriosis in mice, and its mutation increases the risk of certain cancers in humans.

It was found that the desired mutation is present in 31 percent of women with endometriosis, while its prevalence among humans as a whole is only 5.8 percent. "The presence of this mutation is also associated with increased levels of the KRAS protein and increases the ability of cells to proliferate. This may explain the increased risk of ovarian cancer in women with endometriosis," said study leader Hugh Taylor. He also noted that the results obtained can become the basis for the development of new screening and treatment methods.