Mitochondrial DNA Mutation Associated with Leber's Hereditary Optic Neuropathy
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.
- Publication:
-
Science
- Pub Date:
- December 1988
- DOI:
- 10.1126/science.3201231
- Bibcode:
- 1988Sci...242.1427W