Results
| PMID | 23685242 |
| Gene Name | BRCA2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | G10398A, A13603A/G, T10400C |
| Sex | Female |
| Other associated phenotypes |
Endometriosis |
|
Mitochondrion. 2013 Nov;13(6):782-90. doi: 10.1016/j.mito.2013.05.003. Epub 2013 Govatati, Suresh| Deenadayal, Mamata| Shivaji, Sisinthy| Bhanoori, Manjula Department of Biochemistry, Osmania University, Hyderabad 500 007, India. 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. Mesh Terms: Amino Acid Sequence| Animals| Electron Transport Complex I/*metabolism| Endometriosis/*enzymology| Female| Genotype| Haplotypes| Humans| Mitochondria/*enzymology| Mitochondrial Membranes/enzymology| Molecular Sequence Data| Premenopause| Seque |
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