Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
In Invest Ophthalmol Vis Sci, Jan 2016
Of the 71 probands, 44 (62.0%) had mutations in 11 genes responsible for ocular diseases accompanied by high myopia, including COL2A1, COL11A1, PRPH2, FBN1, GNAT1, OPA1, PAX2, GUCY2D, TSPAN12, CACNA1F, and RPGR.
Mitochondrial dynamics and inherited peripheral nerve diseases.
Milano, Italy. In Neurosci Lett, Jul 2015
OPA1 (Optic Atrophy-1) is involved in fusion of mitochondrial inner membrane, and its heterozygous mutations lead to early-onset and progressive dominant optic atrophy which may be complicated by other neurological symptoms including peripheral neuropathy.
Mitochondrial Dynamics and Heart Failure.
Sacramento, United States. In Compr Physiol, 2014
However, other functions involve other areas of the mitochondria, such as OPA1's role in maintaining cristae structure and preventing cytochrome c leak, and its essential (at least a 10 kDa fragment of OPA1) role in mtDNA replication.