title: The role of TGF-β in polycystic ovary syndrome.
abstract: Polycystic ovary syndrome (PCOS) is a common endocrine disorder characterized by chronic oligoanovulation and hyperandrogenism and associated with insulin resistance, type 2 diabetes, and cardiovascular risk. In recent years, genetic studies have linked PCOS to a dinucleotide marker D19S884 in the fibrillin 3 gene. Fibrillins make up the major component of microfibrils in the extracellular matrix (ECM) and interact with molecules in the ECM to regulate transforming growth factor β (TGF-β) signaling. Therefore, variations in fibrillin 3 and subsequent dysregulation of TGF-β may contribute to the pathogenesis of PCOS. Here, we review the evidence from genetic studies supporting the role of TGF-β in PCOS and describe how TGF-β dysregulation may contribute to (1) the fetal origins of PCOS, (2) reproductive abnormalities in PCOS, and (3) cardiovascular and metabolic abnormalities in PCOS.
authors.affiliation: 1Division of Endocrinology, Diabetes, and Metabolism, Pennsylvania State University College of Medicine, M.S. Hershey Medical Center, Hershey, PA, USA.
authors.forename: Nazia
authors.initials: N
authors.lastname: Raja-Khan
authors.forename: Margrit
authors.initials: M
authors.lastname: Urbanek
authors.forename: Raymond J
authors.initials: RJ
authors.lastname: Rodgers
authors.forename: Richard S
authors.initials: RS
authors.lastname: Legro
mesh_terms: D000818:Animals; D005260:Female; D005298:Fertility; D000071837:Fibrillins; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D007247:Infertility, Female / Q000209:etiology / Q000378:metabolism / Q000503:physiopathology; D008840:Microfilament Proteins / Q000235:genetics / Q000378:metabolism; D010053:Ovary / Q000378:metabolism* / Q000503:physiopathology; D010641:Phenotype; D011085:Polycystic Ovary Syndrome / Q000150:complications / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D015398:Signal Transduction; D016212:Transforming Growth Factor beta / Q000378:metabolism*
chemical_list: C493782:FBN3 protein, human; D000071837:Fibrillins; D008840:Microfilament Proteins; D016212:Transforming Growth Factor beta
keywords: TGF-β; fetal origins; fibrillin; genetics; polycystic ovary syndrome