线粒体 tRNA（Val）突变导致线粒体脑肌病、乳酸酸中毒和卒中样发作。
Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes.
机构信息
Section of Biochemical Genetics, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA.
出版信息
Mitochondrion. 2011 Jul;11(4):615-9. doi: 10.1016/j.mito.2011.04.003. Epub 2011 Apr 20.
Abstract
An m.1630A>G mutation in the mitochondrial tRNA(Val) (MTTV) was identified in a patient with hearing impairment, short stature and new onset of stroke. This mutation has previously been identified in a patient with the mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE). The mother of the proband also had high levels of the m.1630A>G allele present in blood and other tissues, without symptoms. To confirm the pathogenicity of this mutation, we created cybrid cell lines with various mutation loads. The m.1630A>G mutation impairs oxygen consumption, affects the stability of the MTTV and reduces the levels of subunits of the electron transport chain.
摘要
在一名听力受损、身材矮小和新发中风的患者中发现了线粒体 tRNA（Val）（MTTV）中的 m.1630A>G 突变。该突变之前在患有线粒体神经胃肠脑肌病（MNGIE）的患者中被发现。先证者的母亲血液和其他组织中也存在高水平的 m.1630A>G 等位基因，但没有症状。为了确认该突变的致病性，我们构建了具有不同突变负荷的细胞杂种系。m.1630A>G 突变会损害耗氧量，影响 MTTV 的稳定性并降低电子传递链亚基的水平。
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