Integral role of BMP-15 in premature ovarian insufficiency

Abstract

Introduction: Premature ovarian insufficiency (POI) being a heterogeneous genetic disease involves the interaction of multiple genes and environmental factors and has been associated with several chromosomal abnormalities, single gene mutations, and genetic polymorphisms. BMP-15 (bone morphogenic protien-15) is a member of the transforming growth factor β (TGF-β) family. BMP-15 gene product (protein) has 3 domains, mature domain (c-terminal region) of BMP-15 protien binds to receptors located on the granulosa cell surface to participate in key steps regarding ovarian function, such as granulosa cell proliferation and follicle maturation, ovulation rate modulation, oocyte competence determination and regulating granulosa cell sensitivity to FSH (Follicle stimulating hormone). Single nucleotide polymorphisms (SNPs) of the BMP-15 gene are associated with POI. Materials & Methods: 30 POI patients and 30 healthy age matched controls were recruited for cytogenetic and molecular analysis in this case-control study. 10 ml of whole blood was collected for karyotyping and Molecular analysis by PCR (polymerase chain reaction). The PCR was performed for known SNPs of the BMP-15 gene (-9C>G, 538G>A, 788insTCT and 852C>T) respectively. Amplified PCR products were sequenced commercially and analyzed against BMP-15 reference sequence using ClustalW2 application.