关键词： CI Diffuse leukodystrophy Genetics MD Mitochondrial disease NDUFV1 mutations NMD complex I mitochondrial respiratory chain disorders nonsense-mediated decay

Mesh ： Amino Acid Sequence Child, Preschool Electron Transport Complex I Energy Metabolism Heterozygote Humans Magnetic Resonance Imaging Male Mitochondrial Diseases / genetics Molecular Sequence Data Mutation, Missense NADH Dehydrogenase / chemistry genetics

来  源：   DOI：10.1016/j.mito.2013.03.010   PDF(Sci-hub)

Abstract：
NDUFV1 mutations have been related to encephalopathic phenotypes due to mitochondrial energy metabolism disturbances. In this study, we report two siblings affected by a diffuse leukodystrophy, who carry the NDUFV1 c.1156C>T (p.Arg386Cys) missense mutation and a novel 42-bp deletion. Bioinformatic and molecular analysis indicated that this deletion lead to the synthesis of mRNA molecules carrying a premature stop codon, which might be degraded by the nonsense-mediated decay system. Our results add information on the molecular basis and the phenotypic features of mitochondrial disease caused by NDUFV1 mutations.
摘要：
由于线粒体能量代谢紊乱，NDUFV1突变与脑病表型有关。在这项研究中,我们报告了两个兄弟姐妹受到弥漫性脑白质营养不良的影响，携带NDUFV1c.1156C>T(第Arg386Cys）错义突变和新的42bp缺失。生物信息学和分子分析表明，这种缺失导致携带提前终止密码子的mRNA分子的合成，可能会被无义介导的衰变系统降解。我们的结果增加了由NDUFV1突变引起的线粒体疾病的分子基础和表型特征的信息。
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