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Genitourinary disease

Polycystic ovary syndrome (PCOS)

DENN/MADD domain containing 1A (DENND1A)

Patient and cell culture studies suggest a DENND1A isoform could be a marker and target for PCOS. Past studies have identified DENND1A as a risk locus for PCOS, which is caused by excess androgen secretion by a subset of ovarian follicle cells called thecal cells. In urine samples from patients with PCOS, levels of exosomes containing RNA of a truncated DENND1A isoform were higher than those in samples from healthy women. In patient thecal cells, a rabbit antibody or shRNA against the truncated DENND1A isoform decreased the induction of androgen-producing enzymes and consequent androgen production compared with an inactive control IgG or scrambled control shRNA. Ongoing work includes developing a PCOS diagnostic based on urine levels of DENND1A isoform RNA.

SciBX 7(17); doi:10.1038/scibx.2014.494
Published online May 1, 2014

Patent application filed by Pennsylvania State University and Virginia Commonwealth University; available for licensing

McAllister, J.M. et al. Proc. Natl. Acad. Sci. USA; published online
March 31, 2014;
Contact: Jan M. McAllister, Pennsylvania State University Hershey College of Medicine, Hershey, Pa.