title: Mitochondrial NADH:ubiquinone oxidoreductase alterations are associated with endometriosis.
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.
authors.affiliation: Department of Biochemistry, Osmania University, Hyderabad 500 007, India.
authors.forename: Suresh
authors.initials: S
authors.lastname: Govatati
authors.forename: Mamata
authors.initials: M
authors.lastname: Deenadayal
authors.forename: Sisinthy
authors.initials: S
authors.lastname: Shivaji
authors.forename: Manjula
authors.initials: M
authors.lastname: Bhanoori
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D042967:Electron Transport Complex I / Q000378:metabolism*; D004715:Endometriosis / Q000201:enzymology*; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008928:Mitochondria / Q000201:enzymology*; D051336:Mitochondrial Membranes / Q000201:enzymology; D008969:Molecular Sequence Data; D017697:Premenopause; D017386:Sequence Homology, Amino Acid
chemical_list: D042967:Electron Transport Complex I
keywords: Complex I; Endometriosis; Haplogroup; Haplotype; Mitochondria; Polymorphism