Home > D. Systemic pathology > Genetic and developmental anomalies > dominant optic atrophy
dominant optic atrophy
Friday 27 January 2006
Etiology
OPA1 is caused by defects in a dynamin-related protein that is targeted to mitochondria and might exert its function in mitochondrial biogenesis and in stabilization of mitochondrial membrane complexes.
References
Shoubridge EA. Nuclear genetic defects of oxidative phosphorylation. Hum Mol Genet. 2001 Oct 1;10(20):2277-84. PMID: 11673411
Smeitink J, van den Heuvel L, DiMauro S. The genetics and pathology of oxidative phosphorylation. Nat Rev Genet. 2001 May;2(5):342-52. PMID: 11331900