AMH mutations with reduced in vitro bioactivity are related to premature ovarian insufficiency

Human Reproduction
B Alvaro MercadalA Delbaere

Abstract

Could anti-Müllerian hormone (AMH) mutations be implicated in the development of idiopathic premature ovarian insufficiency (POI)? Three rare or unknown missense variants of the AMH gene were identified in a cohort of 55 POI patients; all three variants showed a drastically reduced in vitro bioactivity. Genetic factors are implicated in 5-15% of cases of POI. However, only a few genes have been shown to be involved in its development. AMH inhibits the recruitment of primordial follicles in the ovary and defective or absent AMH leads to premature depletion of the primordial follicle pool in AMH null mice. The whole coding sequence and the exon-intron junction of the AMH gene was sequenced in a cohort of 55 POI patients recruited over a period of 8 years. The studied variants were also sequenced in 197 ethnically matched controls. POI was defined as amenorrhea of more than 4 months with increased FSH before the age of 40. Patients with POI resulting from radio- or chemotherapy, surgery, chromosomal anomalies or FMR1 gene pre-mutation were excluded from the study. Recombinant human wild-type (wt) and mutated AMH proteins were produced in HEK293 T cells. KK-1 cells transfected with the AMH receptor type 2 (AMHR2) and a BMP responsi...Continue Reading

References

Feb 1, 2002·Fertility and Sterility·Annemarie de VetBart C J M Fauser
Feb 20, 2003·Trends in Endocrinology and Metabolism : TEM·Nathalie Josso, Nathalie di Clemente
Feb 9, 2006·The Journal of Clinical Endocrinology and Metabolism·Elisa Di PasqualeLuca Persani
Mar 2, 2006·Human Genetics·Hridesh DixitLalji Singh
Apr 29, 2006·European Journal of Endocrinology·Paul LaissueReiner A Veitia
Aug 4, 2006·Reproduction : the Official Journal of the Society for the Study of Fertility·Phil G Knight, Claire Glister
Jan 31, 2008·The Journal of Clinical Endocrinology and Metabolism·Marlies E KevenaarJenny A Visser
Aug 19, 2008·Gynécologie, obstétrique & fertilité·S Christin-Maitre, R Braham
Nov 8, 2008·Nature Medicine·Martin M Matzuk, Dolores J Lamb
Feb 7, 2009·The New England Journal of Medicine·Lawrence M Nelson
Jul 30, 2010·Journal of Molecular Endocrinology·Luca PersaniChiara Cacciatore
Jan 13, 2011·Molecular Reproduction and Development·Fumio OtsukaShunichi Shimasaki
Mar 28, 2012·The Journal of Reproduction and Development·Fuko MatsudaSatoshi Ohkura
Oct 10, 2012·Seminars in Reproductive Medicine·Nathalie JossoJean-Yves Picard
Apr 2, 2013·PloS One·Marieke G M BraemN Charlotte Onland-Moret
Sep 3, 2013·Molecular and Cellular Endocrinology·Jenny A Visser, Axel P N Themmen
May 14, 2014·Human Reproduction Update·Simone L BroerBart C J M Fauser

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Citations

Apr 26, 2016·Systems Biology in Reproductive Medicine·Radek KuceraOndrej Topolcan
Jan 29, 2017·The Journal of Endocrinology·Michael W Pankhurst
Aug 14, 2020·Journal of Assisted Reproduction and Genetics·Ruiyi Tang, Qi Yu
Oct 19, 2019·Animals : an Open Access Journal From MDPI·Shuang YangJiwen Wang
May 15, 2020·Reproductive Biology and Endocrinology : RB&E·Xi XiaAmanda Kallen
Sep 17, 2020·F1000Research·Victoria WesevichLubna Pal
May 16, 2017·The Journal of Clinical Endocrinology and Metabolism·Lidija K GorsicMargrit Urbanek
Jul 14, 2019·Developmental Biology·Rachel D MullenRichard R Behringer
May 28, 2021·Frontiers in Cell and Developmental Biology·Seung Joo ChonMee-Sup Yoon
Apr 15, 2021·Endocrine Reviews·Nathalie di ClementeJoëlle Taieb
Sep 5, 2021·Molecular Genetics & Genomic Medicine·Asma SassiAnne Delbaere
Oct 2, 2021·Medicine·Esther MerliniGiulia Marchetti

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