A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with leber hereditary optic neuroretinopathy
- Univ. of Turku (Finland)
- Univ. of Helsinki (Finland)
Leber hereditary optic neuroretinopathy (LHON) is a maternally inherited ocular disease resulting in bilateral optic atrophy in young adults. Several mtDNA point mutations have been proposed as being causative for LHON, all in complex I, III, or IV of the respiratory chain. The ND4/11778 mutation accounts for {approximately}50% of all LHON families, the ND1/3460 mutation is detected in {approximately}15% of cases, and {approximately}10% of LHON families have the ND6/14484 mutation. All these mutations are restricted to LHON families, and they change evolutionary conserved amino acids. Furthermore, these primary mutations have never been observed to occur simultaneously. Besides the primary mutations, several other replacement mutations have been found in LHON families. These mutations are also detected at low frequency in control individuals, and they change evolutionarily less conserved amino acids. 11 refs., 2 figs.
- OSTI ID:
- 75460
- Journal Information:
- American Journal of Human Genetics, Vol. 56, Issue 5; Other Information: PBD: May 1995
- Country of Publication:
- United States
- Language:
- English
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