Epigenetic root to endometriosis

An epigenetic modification could be an integral component in endometriosis and its progression suggests a new theory from researchers in America. A team from Northwestern University focused on two previously unstudied genes and suggest that the modification is responsible for the chronic and painful disease. “Until now, the scientific community was looking for a genetic mutation to explain endometriosis,” said Serdar Bulun, from the Robert H. Lurie Comprehensive Cancer Centre at Northwestern. “This is the first conclusive demonstration the disease develops as a result of alterations in the epigenetic landscape, and not from classical genetic mutations.” Bulan and colleague Matthew Dyson, a research assistant professor of obstetrics and gynaecology, believe that an epigenetic switch causes the expression of the genetic receptor GATA6 – rather than GATA2 – resulting in progesterone resistance and disease development. “We believe an overwhelming number of these altered cells could reach the lining of the abdominal cavity, survive and grow,” said Bulan. “These finding could someday lead to the first non-invasive test for endometriosis.” Endometriosis only occurs in menstruating primates, suggesting that the unique evolution behind the development of the uterus and menstruation are linked to the disease. Scientists believe retrograde menstruation – cells moving up the fallopian tube and into the pelvis – are one probable cause of the disease. Bulan said that by placing teenagers predisposed to this epigenetic change on a birth control pill regime, they could prevent the possibility of retrograde menstruation in the first place. Dyson now hopes to use the epigenetic fingerprint resulting from the presence of GATA6 rather than GATA2 as a potential diagnostic tool, since these epigenetic differences are readily detectable. “These finding have the potential to shift how we view and treat the disease moving forward,” Bulun concluded.