Gene: [0Mh3307/MTND1] NADH dehydrogenase subunit 1 (mitochondrial); Leber hereditary optic neuropathy (LHON1?; MIM:535000?);
GEN | The gene length: 0.96 kb (956 bp). |
PAT | Leber's hereditary optic neuropathy (LHON) is a bilateral subacute optic neuropathy caused by mutations in the mitochondrial genome. Primary mutations are located at nucleotide positions 3460, 11778, and 14484 in genes encoding subunits of complex 1 of the respiratory chain. Molecular diagnosis has expanded the spectrum of the LHON phenotype and prompted investigation into optic neuropathies due to demyelinating disease, glaucoma, tobacco/alcohol amblyopia, and nutritional optic neuropathy (Kerrison-1997). Proposed determinants of disease include heteroplasmy, an X-linked vision loss susceptibility locus, environmental factors, and secondary" |
HET | According to Wallace-1988 Leber's optic neuropathy has been considered to be caused by another mitochondrial gene mutations (GEM:0Mh10760/MTND4). However Howell-1991 partially argued against this conclusion: in pedigree observed by them a mutation was found only in one of six MTND genes - in the MTND1." |
REL | GEM:0Mh3307/MTND1; GEM:0Mh4470/MTND2; GEM:0Mh10059/MTND3; GEM:0Mh10760/MTND4; GEM:0Mh10470/MTND4L; GEM:0Mh12337/MTND5; GEM:0Ml14673/MTND6." |
REF | MUT,PAT "Howell N &:
AJHG, 48, N5, 935-942, 1991 REV,PAT "Kerrison JB, Newman NJ: Clin Neurosci, 4, N5, 295-301, 1997 MUT,PAT,HET "Wallace DC &: Science, 242, 1427-1430, 1988 |
SWI | SWISSPROT: P03886 |
KEY | mito, neu, eye, mtbd |
CLA | coding, basic |
LOC | 0M H3307-4262 |
MIM | MIM: 516000 |
EZN | ENZYME: 1.6.5.3 |
