The role of complex I genes in MELAS: A novel heteroplasmic mutation 3380G>A in ND1 of mtDNA

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• 作者：Rita Horvá ; th ; Ralf Reilmann ; Elke Holinski-Feder ; E. Bernd Ringelstein ; Thomas Klopstock
• 关键词：MELAS ; Complex I ; Novel mutation
• 刊名：Neuromuscular Disorders
• 出版年：2008
• 出版时间：July 2008
• 年：2008
• 卷：18
• 期：7
• 页码：553-556
• 全文大小：297 K

文摘

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.