Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNA^Leu(CUN) gene

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• 作者：Rebeca Martí ; n-Jimé ; nez^a ; ^{rmartin@isciii.es} ; Elena Martí ; n-Hern&#225 ; ndez^b ; ^{emartinh.hdoc@salud.madrid.org} ; Ana Cabello^c ; ^{acabello.hdoc@salud.madrid.org} ; Marí ; a Teresa Garcí ; a-Silva^b ; ^{mgarcias.hdoc@salud.madrid.org} ; Joaquí ; n Arenas^d ; ^{jarenas@isciii.es} ; Yolanda Campos^a ; ^{ycampos@isciii.es}
• 关键词：Mitochondrial disease ; Mitochondrial DNA tRNALeu(CUN) gene ; Cybrid ; ATP ; Mitochondrial membrane potential ; Reactive oxygen species
• 刊名：Mitochondrion
• 出版年：2012
• 期刊代码：39_15677249
• 类别：neu
• 出版时间：March, 2012
• 卷：12
• 期：2
• 页码：288-293
• 文件大小：437 K

摘要

We report, for the first time, a patient with an overlap MERRF-NARP syndrome who carries the mutation m.12300G>A in the mitochondrial tRNA^Leu(CUN) gene. The mutation was heteroplamic and more abundant in her muscle and fibroblast than in blood from her oligosymptomatic mother. Single muscle fiber analysis revealed that the proportion of mutant mtDNA in ragged red fibers was higher than that in normal fibers. Combined defects of mitochondrial respiratory chain complexes were detected in muscle, fibroblasts and transmitochondrial hybrid cells. Significant reduction of total ATP and mitochondrial membrane potential and an increased production of reactive oxygen species were observed.