The role of complex I genes in MELAS:: A novel heteroplasmic mutation 3380G>A in ND1 of mtDNA
The role of complex I genes in MELAS:: A novel heteroplasmic mutation 3380G>A in ND1 of mtDNA
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DOI：
10.1016/j.nmd.2008.05.002
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发表时间：
2008-07-01
影响因子：
2.8
通讯作者：
Klopstock, Thomas
中科院分区：
文献类型：
--
作者：
Horvath, Rita;Reilmann, Ralf;Klopstock, Thomas
虽然线粒体脑肌病、乳酸酸中毒和卒中样发作(MELAS)通常与线粒体tRNA(Leu)基因突变有关，但线粒体DNA复杂I亚单位基因的突变已成为第二个重要原因。在这里，我们报告了一例晚发性MELAS患者线粒体复合体I亚单位基因ND1的新突变。3380G>；A突变显示了很好的致病性证据，因为它是异质性的，在对照组中检测不到，改变了一种高度保守的氨基酸，并且在粗糙的红色中比正常肌肉纤维中更丰富。这些发现支持复合体I突变在MELAS中的重要作用。(C)2008爱思唯尔B.V.保留所有权利。
While Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is typically associated with mutations in the mitochondrial tRNA(Leu) gene, mutations in complex I subunit genes of the mtDNA have emerged as a second significant cause. Here we report a novel mutation in the mitochondrial complex I subunit gene ND1 in a patient with late-onset MELAS. The 3380G > A mutation shows very good evidence of pathogenicity as it is heteroplasmic, undetectable in controls, alters a highly conserved amino acid, and is more abundant in ragged-red than in normal muscle fibers. These findings support the significant role of complex I mutations in MELAS. (c) 2008 Elsevier B.V. All rights reserved.