ALTERNATIVE, SIMULTANEOUS COMPLEX-I MITOCHONDRIAL-DNA MUTATIONS IN LEBERS HEREDITARY OPTIC NEUROPATHY
ALTERNATIVE, SIMULTANEOUS COMPLEX-I MITOCHONDRIAL-DNA MUTATIONS IN LEBERS HEREDITARY OPTIC NEUROPATHY
复制标题
DOI：
10.1016/0006-291x(91)91567-v
复制
发表时间：
1991-02-14
影响因子：
3.1
通讯作者：
BERMAN, J
中科院分区：
文献类型：
--
作者：
JOHNS, DR;BERMAN, J
Leber的遗传性视神经病变与50%的家族中ND-4基因11778位的线粒体DNA突变有关。在11778个Leber家族中发现了4,216 （ND-1）、4,917 （ND-2）和13,708 （ND-5）位Complex I基因的3个突变。4,917和13,708突变在11,778- Leber先证者中分别占36%（4,917突变）和43%（13,708突变）。多个同时发生的突变被记录下来。不同的，功能相关的复合体I基因突变是Leber遗传性视神经病变的主要发病特征。
Leber's hereditary optic neuropathy has been linked to a mitochondrial DNA mutation at position 11,778 in the ND-4 gene in 50% of families. Three alternative mutations in Complex I genes at positions 4,216 (ND-1), 4,917 (ND-2), and 13,708 (ND-5) were discovered in 11,778- Leber families. The 4,917 and 13,708 mutations appear pathogenetically significant and were observed in 36% (4,917 mutation) and 43% (13,708 mutation) of 11,778- Leber probands. Multiple, simultaneous mutations were noted. Mutation of distinct, functionally related Complex I genes is the central pathogenetic feature of Leber's hereditary optic neuropathy.