AN ND-6 MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH LEBER HEREDITARY OPTIC NEUROPATHY
AN ND-6 MITOCHONDRIAL-DNA MUTATION ASSOCIATED WITH LEBER HEREDITARY OPTIC NEUROPATHY
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DOI：
10.1016/0006-291x(92)90479-5
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发表时间：
1992-09-30
影响因子：
3.1
通讯作者：
PARK, RD
中科院分区：
文献类型：
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作者：
JOHNS, DR;NEUFELD, MJ;PARK, RD
在14例Leber遗传性视神经病变的独立先证者和0250例对照者中发现线粒体DNA第14,484位核苷酸突变。在ND-6基因的保守结构域中，14，484突变将甲硫氨酸-64变为缬氨酸，该突变与线粒体DNA单倍型相关，该单倍型包括1014个先证者中的13，708二级突变。在核苷酸位置3,394的相关突变，改变保守的酪氨酸-30组氨酸在ND-1基因，观察到5 14个先证者阳性的14,484突变，所有人都具有相同的线粒体DNA单倍型。多个线粒体DNA突变可能在Leber遗传性视神经病变的发病机制中相互作用，并且13，708次级突变似乎在此过程中发挥核心作用。
A mitochondrial DNA mutation at nucleotide position 14,484 was found in 14 independent probands with Leber hereditary optic neuropathy and in 0 250 controls. The 14,484 mutation, which changes methionine-64 to valine in a conserved domain of the ND-6 gene, occurred in association with a mitochondrial DNA haplotype that includes the 13,708 secondary mutation in 10 14 probands. An associated mutation at nucleotide position 3,394, which changes conserved tyrosine-30 to histidine in the ND-1 gene, was observed in 5 14 probands positive for the 14,484 mutation, all of whom harbored the same mitochondrial DNA haplotype. Multiple mitochondrial DNA mutations may interact in the pathogenesis of Leber hereditary optic neuropathy and the 13,708 secondary mutation appears to play a central role in this process.