Mitochondrial NADH:ubiquinone oxidoreductase alterations are associated with endometriosis

Suresh Govatati, Mamata Deenadayal, Deenadayal M, S. Shivaji, Sisinthy Shivaji, Manjula Bhanoori, Bhanoori M
Mitochondrion · 2013 · vol. 13(6) , pp. 782–790 · doi:10.1016/j.mito.2013.05.003 · PMID:23685242 · W2070599284
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This paper investigates alterations in mitochondrial NADH:ubiquinone oxidoreductase within the context of endometriosis.

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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.

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Condition tags

endometriosis

MeSH descriptors

Electron Transport Complex I Endometriosis Mitochondria Amino Acid Sequence Animals Electron Transport Complex I Endometriosis Female Genotype Haplotypes Humans Mitochondria Mitochondrial Membranes Mitochondrial Membranes Molecular Sequence Data Premenopause Sequence Homology, Amino Acid

Citation neighborhood

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

References (48)

Cited by (11)

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