MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH LEBERS HEREDITARY OPTIC NEUROPATHY
MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH LEBERS HEREDITARY OPTIC NEUROPATHY
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DOI：
10.1126/science.3201231
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发表时间：
1988-12-09
期刊：
影响因子：
56.9
通讯作者：
NIKOSKELAINEN, EK
中科院分区：
文献类型：
--
作者：
WALLACE, DC;SINGH, G;NIKOSKELAINEN, EK
Leber遗传性视神经病变是一种母系遗传性疾病，导致视神经变性和心律失常。在多个家系中发现了与该疾病相关的线粒体DNA置换突变。该突变将NADH脱氢酶亚基4基因中密码子340处的高度保守的精氨酸转化为组氨酸，并消除了Sfa NI位点，从而提供了简单的诊断测试。这一发现表明，线粒体DNA能量产生基因中的核苷酸变化可能导致神经系统疾病。
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.