Integral role of BMP-15 in premature ovarian insufficiency
Keywords:
premature ovarian failure, premature ovarian insufficiency, primary & secondary amenorrhea, BMP15 gene polymorphism, turner mosaicismAbstract
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.
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Conway GS, Kaltsas G, Patel A, et al.: Characterization of idiopathic premature ovarian failure. FertilSteril. 1996, 64:337-41. 10.1016/S0015-0282(16)58095-9
Goswami D, Conway GS: Premature ovarian failure. Hum Reprod Update. 2005, 11:391-410. 10.1093/humupd/dmi012.
Coulam CB, Adamson SC, Annegers JF: Incidence of premature ovarian failure.. ObstetGynecol. 1986, 67:604-606. 10.1097/00006254-198703000-00020
Nelson LM, Anasti JN, Kimzey LM, et al.: Development of luteinized graafian follicles in patients with karyotypically normal spontaneous premature ovarian failure. J ClinEndocrinolMetab. 1994, 79:1470-5. 10.1210/jcem.79.5.7962345
Persani L, Rossetti R, Cacciatore C: Genes involved in human premature ovarian failure. J. Mol. Endocrinol. 2010, 45:257-279. 10.1677/JME-10-0070
Timmreck LS, Reindollar RH: Contemporary issues in primary amenorrhea. Obstet. Gynecol. Clin. North Am. 2003, 30:287-302. 10.1016/S0889-8545(03)00027-5
Kinch R, Plunkett E, Smout M, et al.: Primary Ovarian Failure; A Clinicopathological And Cytogenetic Study. Am J Obstet Gynecol. 1965, 91:630-44.
Kumar M, Pathak D, Venkatesh S, et al.: Chromosomal abnormalities & oxidative stress in women with premature ovarian failure (POF). The. Indian Journal of Medical Research. 2012, 135:92-97. 10.4103/0971-5916.93430
Pu D, Xing Y, Gao Y, et al.: Gene variation and premature ovarian failure: a meta-analysis. Eur J ObstetGynecolReprod Biol. 2014, 182:226-37. 10.1016/j.ejogrb.2014.09.036
Dube JL, Wang P, Elvin J, et al.: The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes. MolEndocrinol. 1998, 12:1809-17. 10.1210/mend.12.12.0206
Hanrahan JP, Gregan SM, Mulsant P, et al.: Mutations in the genes for oocyte-derived growth factors GDF9 and BMP15 are associated with both increased ovulation rate and sterility in Cambridge and Belclare sheep (Ovisaries). BiolReprod. 2004, 70:900-9. 10.1095/biolreprod.103.023093
Persani L, R. Rossetti, E. Di Pasquale, et al.: The fundamental role of bone morphogenetic protein 15 in ovarian function and its involvement in female fertility disorders. Hum. Reprod. Update. 2014, 20:869-883. 10.1093/humupd/dmu036
Fonseca DJ, Ortega-Recalde O, Esteban-Perez C, et al.: BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure. Reprod Biomed Online. 2014, 29:627-33. 10.1016/j.rbmo.2014.07.018
Zinn AR, Tonk VS, Chen Z, et al.: Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet. 1998, 63:1757-66. 10.1086/302152
Afkhami F, Shahbazi S, Farzadi L, et al.: Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency. Reprod Biol Endocrinol 20. 42:10.1186/s12958-022-00913-6
Qin Y, Tang T, Li W, et al.: Bone Morphogenetic Protein 15 Knockdown Inhibits Porcine Ovarian Follicular Development and Ovulation. Frontiers in Cell and Developmental Biology . 2019, 7:10.3389/fcell.2019.00286
Galloway SM, McNatty KP, Cambridge LM, et al.: Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner. Nat Genet. 2000, 25:279-83. 10.1038/77033
Di Pasquale E, Beck-Peccoz P, Persani L: Hypergonadotropic Ovarian Failure Associated with an Inherited Mutation of Human Bone Morphogenetic Protein-15 (BMP15) Gene. American Journal of Human Genetics. 2004, 75:106-111. 10.1086/422103
Rinartha, K., & Suryasa, W. (2017). Comparative study for better result on query suggestion of article searching with MySQL pattern matching and Jaccard similarity. In 2017 5th International Conference on Cyber and IT Service Management (CITSM) (pp. 1-4). IEEE.
Ermatov, N., Bobomuratov, T., & Sagdullaeva, M. (2022). Prolonged newborns and prolong pregnancy: A modern view on the problem. International Journal of Health & Medical Sciences, 5(1), 26-30. https://doi.org/10.21744/ijhms.v5n1.1829
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