A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy
A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy
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DOI：
10.1016/j.mito.2005.03.003
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发表时间：
2005-06-01
期刊：
影响因子：
4.4
通讯作者：
Koga, Y
中科院分区：
文献类型：
--
作者：
Povalko, N;Zakharova, E;Koga, Y
我们分析了15例俄罗斯LHON患者的线粒体DNA序列，发现一个家族（2例患者）的新的线粒体DNA序列变异，该家族的男性发病率为100%。该家系有1个T14484C原发突变和4个继发突变（T4216C、G13708A、G15812A、G15257A），属于欧洲单倍群J。ATPase6基因A9016G的新序列变异将高度保守的异亮氨酸变为缬氨酸，在其余13例LHON患者和对照中未发现。这种新的序列变异可能有助于该家族男性中LHON疾病的100%渗透。(C)2005年Elsevier B.V.和线粒体研究学会。All rights reserved.
We have analyzed mitochondrial DNA sequence in 15 Russian LHON patients and found the new mtDNA sequence variant in one family (2 patients) who showed 100% penetrance of the disease in men. This family has a T14484C primary mutation, and four secondary mutations (T4216C, G13708A, G15812A, G15257A), which belong to the European haplogroup J. The new sequence variant of A9016G in the ATPase 6 gene changed highly conserved amino acid of isoleucine to valine, has not been found in the rest of 13 LHON patients and controls. This novel sequence variant may contribute to the 100% penetration of LHON disorder in men of this family. (C) 2005 Elsevier B.V. and Mitochondria Research Society. All rights reserved.