Mutational Analysis of BMP15 Gene in Infertile Female Patients (Research Proposal Sample)
Summary of the project proposal
Reproduction ensures continuity of life by combining genetic information from both parents. Many factors have been reported to contribute to the infertility affecting 10 to 15% of the couples globally. Primary ovarian insufficiency (POI) is one of the major causes of infertility in 20% of adult females. However the other underlying genetic factors are unclear. POI generally exhibit ovarian follicle pool depletion that ultimately causes reproductive incapability. The current study is aimed at screening BMP15 pathogenic variants in three consanguineous families suffering from POI. The female patients with BMP15 pathogenic variants have seen to demonstrate similar phenotype. The two consanguineous infertile families having female individuals with POI pathogenesis have already been recruited. Genomic DNA extraction followed by PCR, Sanger sequencing will be performed and pathogenic nature of variants will be identified. The study may yield novel pathogenic variants in BMP15 gene causing POI.
Introduction
Fundamental process of development is fertilization which is the prerequisite for reproduction. Fertilization leads to the cascade of events which are compulsory for zygotic development. (Zhao, S. et al., 2019). It is crucial to maintain the number of chromosome in the offspring during gametogenesis otherwise improper segregation of the chromosomes may result in genetic defects in the offspring. Various hormones have role in our reproduction cycle. Female hormones include gonadotropin releasing hormones (GdRH) released from the brain which act on pituitary gland to stimulate release of luteinizing hormone and follicle stimulating hormone. While female sex hormones produced in ovaries and corpus leuteum are estrogen and progesterone. However small amount of testosterone is also found in females. Male GdRH are produced in hypothalamus and causes FSH and LH to release which ultimately stimulate production of testosterone. Any increase or decrease in these hormones above or below the threshold level causes fertility complications. (Qin et al., 2019).
Polycystic ovary syndrome (PCOs) a gynealogic disorder is now seen even more frequently affecting 5-10% of women globally showing hyperandrogenemia and oligo-anovulation. It is hormonal imbalance and an endocrine disorder (Macut, D. et al., 2018). Symptoms include various dermatological features and obesity (Khan M.J. et al., 2019). Genes found to have role in PCOs are CYP17A1, CYP21A2, CYP19, CYP17, AMH, THADA, LEPR, YAP1, SUOX, VDR, HSD17B1, HSD17B2, StAR, SHBG, LH, FSH, Insulin like growth factor I, SIRITI, Calpain 10 gene, MTHFR. (Al khaduri, M. et al., 2020). It can even occur prior to menarche or in early adolescence. (Macut, D. et al., 2018).
Primary or premature ovarian insufficiency also called premature ovarian failure is a term defined classically as amenorrhea of 4-6 months with low estradiol and elevated FSH levels under the age of 40 years regarded as earlier ovarian aging. (Kanal P. and Sharma. S. 2006). POI phenotypes showed amenorrhea or oligomenorrhea, hypoestrogenism, infertility and increased follicle apoptosis which decrease initial number of follicles thus affected female had fewer eggs. (Welt, C. K., 2008). In Primary infertility women never achieves pregnancy. While at least one pregnancy is achieved in secondary infertility. (Cox, L., and Liu, J.H., 2014). According to one research in
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