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 Amino Acid Sequence Animals Animals Electron Transport Complex I Electron Transport Complex I Endometriosis Endometriosis Female Female Genotype Genotype Haplotypes Haplotypes Humans Humans Mitochondria

Citation neighborhood (2-hop)

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. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (48)

Cited by (11)

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