Literature DB >> 23685242

Mitochondrial NADH:ubiquinone oxidoreductase alterations are associated with endometriosis.

Suresh Govatati1, Mamata Deenadayal, Sisinthy Shivaji, Manjula Bhanoori.   

Abstract

Genetic alterations and aberrant expression of 'mitochondrial membrane complex I' (MMC-I) underlie several complex human disorders, but no reports are documented to date in endometriosis. Sequencing of mitochondrially encoded MMC-I subunits revealed 72 mutations of which 2 missense (G10398A; A13603A/G) mutations and 1 synonymous (T10400C) mutation showed higher prevalence in patients. In silico functional analysis predicted A13603A/G, a novel heteroplasmy as a 'damaging variant'. Our results indicate higher endometriosis risk for haplotype '10398A/10400C/13603AG' and haplogroup 'N'. Immunohistochemical analysis revealed elevated MMC-I expression in eutopic endometria of patients compared to controls. In conclusion, MMC-I alterations may constitute an inheritable risk factor for endometriosis.
Copyright © 2013 Elsevier B.V. and Mitochondria Research Society. All rights reserved. All rights reserved.

Entities:  

Keywords:  Complex I; Endometriosis; Haplogroup; Haplotype; Mitochondria; Polymorphism

Mesh：

Substances：

Year:  2013        PMID： 23685242     DOI： 10.1016/j.mito.2013.05.003

Source DB:  PubMed          Journal:  Mitochondrion        ISSN： 1567-7249            Impact factor:   4.160


  5 in total

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Authors:  Suresh Govatati; Kiran Challa; Sunita B Reddy; Kayathi Pramod; Mamata Deenadayal; Baidyanath Chakravarty; Sisinthy Shivaji; Manjula Bhanoori
Journal:  J Assist Reprod Genet       Date:  2014-11-08       Impact factor: 3.412

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Authors:  Linjie Wang; Xin Yang; Yuehua Zhu; Siyuan Zhan; Zhe Chao; Tao Zhong; Jiazhong Guo; Yan Wang; Li Li; Hongping Zhang
Journal:  Cells       Date:  2019-08-15       Impact factor: 6.600

4.  Mitochondrial control region alterations and breast cancer risk: a study in South Indian population.

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Journal:  PLoS One       Date:  2014-01-30       Impact factor: 3.240

5.  miR-451 deficiency is associated with altered endometrial fibrinogen alpha chain expression and reduced endometriotic implant establishment in an experimental mouse model.

Authors:  Warren B Nothnick; Amanda Graham; Joshua Holbert; Mitchell J Weiss
Journal:  PLoS One       Date:  2014-06-17       Impact factor: 3.240
  5 in total

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