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A Genetic Link to Endometriosis

endometriosis Endometriosis is one of the heritable genetic diseases that can run in families. Researchers have learned that there are a few specific gene variants that seem to play a part in the development of endometriosis. This discovery may provide answers for at least some of the questions about why some women develop this disease, while others, in the same family, do not.

Endometriosis is a disease that causes an abnormal growth of the cells in the uterus. It can also cause abnormal growths to appear on other areas of the body that have similarities to the uterus, such as the ovaries, and the bowel. These growths can cause inflammation, pelvic pain, and very painful menstrual periods. Women with endometriosis may become infertile, due to the disease. Others will have great difficulty conceiving. This is a progressive condition that gets worse with every menstrual cycle.

Treatment for this disease can involve surgery, to remove the cysts, adhesions, and growths. It is possible that more than one surgery will be required, as this is a disease where the abnormal growths do not stop. There are also hormonally based treatments that simulate menopause, stop certain hormones from being produced, and cause the growths to shrink, or stop growing entirely. Endometriosis is a disease that affects between 6% and 10% of women who are of childbearing age.

Researchers did a study that compared the genes of 5,586 women who had endometriosis to the genes of 9,331 women who did not have the disease. The results showed that there are two different genetic variants that appear to have an effect on determining who will develop endometriosis. The women who had those specific variations were much more likely to have endometriosis than the women who did not have those genetic variants. One genetic variations appear on chromosome 7, which is involved with the lining of the uterus, as well as the uterus itself. Another genetic variation appears on chromosome 1, which is involved with the development of the entire female reproductive tract. This discovery may lead to better ways to treat endometriosis, as well as more accurate ways to screen for it.

Image by Ed Uthman on Flickr