Article
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy.
Molecular vision - 15 Dec 2010
Hudson Gavin, Yu-Wai-Man Patrick, Griffiths Phillip G, Caporali Leonardo, Salomao Solange S, Berezovsky Adriana, Carelli Valerio, Zeviani Massimo, Chinnery Patrick F
Abstract excerpt
PURPOSE: Leber hereditary optic neuropathy (LHON) is a common cause of inherited blindness, primarily due to one of three mitochondrial DNA (mtDNA) mutations. These mtDNA pathogenic mutations have variable clinical penetrance. Recent linkage evidence raised the possibility that the nuclear gene optic atrophy 1 (OPA1) determines whether mtDNA mutation carriers develop blindness. To validate these findings we...
Topics
- DNA Mutational Analysis
- DNA, Mitochondrial
- GTP Phosphohydrolases
- Gene Frequency
- Haplotypes
- Humans
- Optic Atrophy, Hereditary, Leber
- Penetrance
- Polymorphism, Single Nucleotide