Identification of Variants in Mitochondrial D-Loop and OriL Region and Analysis of Mitochondrial DNA Copy Number in Women with Polycystic Ovary Syndrome.

DNA and Cell Biology
Pallavi ShuklaAnushree Patil

Abstract

Polycystic ovary syndrome (PCOS) is a multifactorial disorder characterized by irregular menstrual problems, hyperandrogenism, and presence of polycystic ovaries. Till date, molecular mechanism underlying PCOS remains elusive. Recently mitochondrial displacement loop (D-loop) variants have been identified to be novel players in the pathogenesis of PCOS. At present, rare variants, besides common variants, are also the focus of research as it is believed to make essential contribution to the risk of complex diseases. However, rare and low hetroplasmic variants in mitochondrial D-loop are still not investigated in PCOS women. Furthermore, variants in light-strand origin of DNA replication (OriL) of mitochondrial DNA (mtDNA) have not been explored in PCOS. Hence, in this study, we investigated rare to common mitochondrial D-loop and OriL region variants obtained using mtDNA next-generation sequencing in women with PCOS. Furthermore, we also assessed mtDNA copy number, a biomarker of mitochondrial dysfunction (MD) in women with PCOS, as the variants in mtDNA are known to be associated with low mtDNA copy number in PCOS women. A total of 67 D-loop variants including 6 novel variants were identified in 30 PCOS women. Among 67 variants...Continue Reading

References

Jan 9, 2004·Fertility and Sterility·UNKNOWN Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group
May 28, 2004·Nature·Aleksandra TrifunovicNils-Göran Larsson
Jan 15, 2005·Annals of the New York Academy of Sciences·Jin-Qiang Chen, James D Yager
Oct 6, 2006·American Journal of Physiology. Cell Physiology·Ana Navarro, Alberto Boveris
Jan 27, 2007·Current Diabetes Reports·Andrea J CussonsGerald F Watts
Jun 15, 2007·Fertility and Sterility·Jean-Patrice Baillargeon, André Carpentier
Nov 28, 2007·Journal of Neuroscience Research·Junghee LeeHoon Ryu
Sep 19, 2009·Biochimica Et Biophysica Acta·Helen A L TuppenRobert W Taylor
Feb 5, 2010·Molecular Cell·Javier Miralles FustéMaria Falkenberg
Jan 21, 2011·Fertility and Sterility·Robert A WildEnrico Carmina
Jun 17, 2011·Metabolism: Clinical and Experimental·Sang-Hee LeeJi-Won Lee
Jan 19, 2012·Nature Reviews. Genetics·Greg Gibson
May 2, 2012·Archives of Gynecology and Obstetrics·Guangchao ZhuoYan Jiang
Oct 24, 2012·EMBO Reports·Sjoerd WanrooijMaria Falkenberg
Jul 1, 2012·Journal of Family Medicine and Primary Care·Hana FakhouryWaleed Tamimi
Apr 9, 2014·Experimental Gerontology·Thomas J Nicholls, Michal Minczuk
Jul 30, 2015·Journal of Diabetes Investigation·Chizumi YamadaYasuhiro Nishizaki
Jul 28, 2016·Proceedings of the National Academy of Sciences of the United States of America·Richard G HunterBruce S McEwen
Oct 20, 2017·JAMA Cardiology·Foram N AsharDan E Arking
Jan 19, 2018·Journal of Applied Genetics·Joanna RuseckaKatarzyna Tońska
Feb 7, 2018·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Mengqin DuanZuhong Lu
Feb 15, 2018·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Wenjuan DuanXiao Wang
Jun 23, 2018·Journal of Biochemistry·Takehiro Yasukawa, Dongchon Kang
Jun 15, 2019·International Journal of Preventive Medicine·Masoumeh Mohammadi
Jul 19, 2019·Oxidative Medicine and Cellular Longevity·Giulia Rigotto, Emy Basso
Aug 14, 2019·Aging Cell·Adam S ZiadaUNKNOWN CIHR team grant on cellular aging, HIV comorbidities in women, children (CARMA)

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Citations

May 1, 2021·International Journal of Molecular Sciences·Siarhei A DabravolskiAlexander N Orekhov

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Methods Mentioned

BETA
enzyme-linked immunosorbent assay
PCR

Software Mentioned

MToolBox
FastQC
MiSeq
MITOMAP
Trim Galore

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