Genetic clue for female infertility

A tiny variation in a gene which regulates cholesterol may affect progesterone. This discovery could unravel an infertility mystery for many women who do not know the source of their troubles.

The new study from Johns Hopkins suggests that the condition can be discovered with a simple blood test which checks the variation of the scavenger receptor class B type 1 gene (SCARB1). They make clear there is no approved therapy for the condition yet, but identifying the problem is a good start.

Researchers followed up studies where female mice showed a link between a deficiency in the receptors for HDL and infertility, and discovered the same link in studies of women with a history of infertility. If the findings hold true through further scrutiny this could be a newly discovered genetic cause of infertility. Additionally, there is a treatment which seems to work for the mice and it could potentially be adapted for human use.

“Infertility is fairly common and a lot of the reasons for it are still unknown,” acknowledged endocrinologist Annabelle Rodriguez, MD, an associate professor of medicine at the Johns Hopkins University School of Medicine and the leader of the study. “Right now the benefit of this research is in knowing that there might be a genetic reason for why some women have difficulty getting pregnant. In the future, we hope this knowledge can be translated into a cure for this type of infertility.”

Source: John Hopkins University, Journal of Human Reproduction, MedicalNewsToday