Almost one-third of 132 women with endometriosis had a genetic abnormality compared with only 5 out of every 100 women of the general population, according to Dr. Hugh S. Taylor, who presented the findings at the annual congress of the Endometriosis Foundation of America.
Dr. Taylor performed an observational study of DNA from 132 women with endometriosis, cell culture analyses
“This is the only clearly identified genetic cause of endometriosis,” explained Dr. Taylor. The genetic mutation produces a protein involved primarily in controlling cell division.
The women with this genetic mutation have a high rate of the cells dividing and invading the cells that line the womb (the endometrial cells). These properties may be the reason why these women with endometriosis have the cells lining the uterus (the endometrial cells) invading into lining of the abdomen (the peritoneum) and the surface of the ovary (the ovarian cortex).
We are not sure of what really causes endometriosis
There are several theories and the most accepted one is that during menstruation, the blood flows backwards instead of forwards and out in a reverse or “retrograde” manner such that the menstrual blood and cells stick to the surface of the surrounding tissues that then allow the cells to grow.
The fact that only a portion of women develop this disease despite the nearly universal occurrence of retrograde menstruation could be explained by the presence of this (abnormal gene) allele,” said Dr. Taylor, director of the division of reproductive endocrinology and infertility at Yale University, New Haven, Conn.
Since the mutation occurs only in a subgroup of women with endometriosis, genetic testing cannot be used as a screening tool. However, the recognition of genetic mutation linked to endometriosis may allow for screening of family members and may have value for personalizing treatment of endometriosis, said Dr. Taylor.
Dr. Taylor had no relevant financial disclosures.
This was reported for Ob.Gyn. News Digital Network by AMY ROTHMAN SCHONFELD.