Keri Donaldson
Penn State University College of Medicine, USA
Title: Validation of a Urine Assay for Polycystic Ovary Syndrome
Biography
Biography: Keri Donaldson
Abstract
Polycystic ovary syndrome (PCOS) affects 5-7% of reproductive-age women. PCOS is characterized by increased androgen levels, anovulation, insulin insensitivity and infertility. Despite the high prevalence, there is no single specific test to definitively diagnose PCOS, representing an unmet diagnostic need. Previous studies have identified DENND1A, a clathrin-binding protein that sits in coated pits at the crossroads of receptor/ligand interactions with downstream intracellular signaling pathways, as a strong PCOS candidate gene. We have shown that the truncated isoform of DENND1A (DENN1A.V2) is increased in ovarian theca cells isolated from PCOS women. Forced overexpression of DENND1A.V2 in theca cells from normal cycling women resulted in a PCOS phenotype of increased androgen biosynthesis. We previously described the development and performance characteristics of a urine assay for the detection of DENN1A.V2 in exosomes and total RNA isolated from the blood and urine utilizing standard real-time quantitative PCR. We are in the process of developing and automating high-throughput urine RNA isolation coupled inline with a semi-quantitative allele specific microarray based analytic. This assay will allow for rapid reproducible diagnosis of PCOS leading to precision therapeutics.