RGD Reference Report - Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation. - Rat Genome Database

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Leber's hereditary optic neuropathy: heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation.

Authors: Black, GC  Morten, K  Laborde, A  Poulton, J 
Citation: Black GC, etal., Br J Ophthalmol. 1996 Oct;80(10):915-7.
RGD ID: 5508709
Pubmed: PMID:8976705   (View Abstract at PubMed)
PMCID: PMC505650   (View Article at PubMed Central)

AIM: To assess the effect of heteroplasmy on the expression of Leber's hereditary optic neuropathy (LHON) in a large family with the 3460 LHON mutation. METHODS: Mutation detection was performed by restriction enzyme digestion of polymerase chain reaction (PCR) products. Heteroplasmy was estimated by quantitation of wild type:mutant product ratios. RESULTS: There is a significant association between levels of mutant mtDNA and manifestation of the disease phenotype. CONCLUSION: As a high proportion of families with the 3460 mutation demonstrate heteroplasmy; this is likely to be a significant factor in disease expression.

Objects referenced in this article
Gene MT-ND1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 Homo sapiens
Gene mt-Nd1 NADH dehydrogenase 1, mitochondrial Mus musculus
Gene Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 Rattus norvegicus

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