doi: 10.1126/science.3201231.
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
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- PMID: 3201231
- DOI: 10.1126/science.3201231
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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
Science.
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Abstract
Leber's hereditary optic neuropathy is a maternally inherited disease resulting in optic nerve degeneration and cardiac dysrhythmia. A mitochondrial DNA replacement mutation was identified that correlated with this disease in multiple families. This mutation converted a highly conserved arginine to a histidine at codon 340 in the NADH dehydrogenase subunit 4 gene and eliminated an Sfa NI site, thus providing a simple diagnostic test. This finding demonstrated that a nucleotide change in a mitochondrial DNA energy production gene can result in a neurological disease.
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