The variant in the gene DENND1A has been identified as a likely stimulant for the overproduction of androgen in women with polycystic ovary syndrome (PCOS), a female infertility disorder. The study was published online in the Proceedings of the National Academy of Sciences and was funded by the National Institute of Health’s Eunice Kennedy Shriver National Institute of Child Health and Human Development.

Prior research had identified multiple genes in areas on chromosomes that could be associated with PCOS, including a location with DENND1A. Genome-wide scans of women of Asian and European descent verified the link between the gene and PCOS. Jan M. McAllister, PhD, from the Penn State College of Medicine and collaborators examined theca cells from women with PCOS and found that these cells had higher levels of a variant form of DENND1A, called DENNDA1A.V2, compared to theca cells from women without PCOS.

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The cells from women without PCOS were then adapted to produce high levels of DENND1A.V2, which in turn produced elevated androgen levels. After the role of DENNDA1A.V2 was blocked in the theca cells from women with PCOS, androgen levels dropped significantly. Other genes that produce androgen and the levels of messenger RNA necessary to produce androgens also experienced a reduction in activity.

The study authors hope that these findings can lead to new forms of diagnostic testing for PCOS, including non-invasive detection, as well as a possible gene therapy as a treatment or cure.

For more information visit NIH.gov.