The Mitochondrial tRNALeu(UUR) A3302G Mutation may be Associated With Insulin Resistance in Woman With Polycystic Ovary Syndrome

Reproductive Sciences
Yu DingCaijuan Zhang

Abstract

The aim of this study was to investigate the role of mitochondrial DNA (mtDNA) mutations in polycystic ovary syndrome (PCOS) with insulin resistance (IR), and to explore the possible maternally effects on PCOS. We performed clinical, genetic, and molecular characterization of a Han Chinese family with maternally inherited IR, and we further investigated the possible relationship between mitochondrial genetic background, copy number, and IR. Most strikingly, members from the first and second generation of this family exhibited the type 2 diabetes mellitus (T2DM) with IR, while the member in the third generation of this family manifested the PCOS. Sequence analysis of the complete mitochondrial genome showed the presence of a homoplasmic A3302G in the acceptor arm of transfer RNA(Leu(UUR)) (tRNA(Leu(UUR))) gene. This mutation disrupted the highly conserved base pairing (2T-71A) and resulted a failure in mt-tRNA metabolism. Analysis of the mitochondrial copy number showed that the patients with PCOS and IR had lower copy number than the health controls, suggesting that mitochondrial dysfunction may be involved in the pathogenesis of IR. Taken together, the A3302G mutation was a pathogenic mutation associated with IR in this Chines...Continue Reading

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Citations

Sep 19, 2018·Reproductive Sciences·Maria Rosa Maduro
Jul 5, 2018·Annals of Pediatric Endocrinology & Metabolism·Hashin KimSeung-Yup Ku
Feb 23, 2020·DNA and Cell Biology·Xin ZengZhongcheng Mo
Aug 20, 2019·Reproductive Biology and Endocrinology : RB&E·Jingshun ZhangLianwen Zheng
Feb 19, 2020·Current Opinion in Obstetrics & Gynecology·Mauro Cozzolino, Emre Seli
Dec 12, 2018·Journal of Animal Science and Biotechnology·Dan WangXingbo Zhao
Apr 12, 2021·Irish Journal of Medical Science·Xiaohong YouChangzheng Xin
May 1, 2021·International Journal of Molecular Sciences·Siarhei A DabravolskiAlexander N Orekhov

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Methods Mentioned

BETA
PCR
aminoacylation

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