| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10882990 | Mitochondrion | 2013 | 9 Pages |
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.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biophysics
Authors
Suresh Govatati, Mamata Deenadayal, Sisinthy Shivaji, Manjula Bhanoori,