Endometriosis, a condition affecting over 70 million women, has been associated with a specific genetic mutation leading to hope that genetic screening could be an effective method of determining which women are at risk of the condition.
The discovery, that a mutation in a gene known as KRAS is associated with endometriosis, was found by researchers at Yale School of Medicine, USA. The mutation, which occurs on the gene responsible for reproduction, leads to abnormal endometrial growth. This abnormal growth can increase the risk of uterine tissue growing elsewhere in the body, as in endometriosis. It was found that 31% of women with endometriosis in the Yale study were carrying the mutation whereas only 5.8% of the general population are known to carry it.
It is hoped that this mutation could form the basis of endometriosis screening methods. Currently endometriosis is diagnosed using tests such as ultrasound or laparoscopy following symptoms of pain during menstrual periods, painful sexual intercourse or difficulty conceiving. For more information about the diagnosis of endometriosis please click here.
