线粒体DNA
Leber遗传性视神经病
突变
视神经病变
基因
遗传学
人类线粒体遗传学
点突变
生物
视神经
线粒体
分子生物学
解剖
作者
Douglas C. Wallace,Gurparkash Singh,Marie T. Lott,Judy A. Hodge,Theodore G. Schurr,Angela Maria Serena Lezza,Louis J. Elsas,Eeva Nikoskelainen
出处
期刊:Science
[American Association for the Advancement of Science]
日期:1988-12-09
卷期号:242 (4884): 1427-1430
被引量:2358
标识
DOI:10.1126/science.3201231
摘要
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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