Mutation in the mitochondrial tRNAva1 causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes

被引：28

作者：

Glatz, Catherine ^{[1
]}

D'Aco, Kristin ^{[1
]}

Smith, Sabrina ^{[2
,3
]}

Sondheimer, Neal ^{[1
,3
]}

机构：

[1] Childrens Hosp Philadelphia, Sect Biochem Genet, Philadelphia, PA 19104 USA

[2] Childrens Hosp Philadelphia, Neurol Sect, Philadelphia, PA 19104 USA

[3] Univ Penn, Dept Pediat, Philadelphia, PA 19104 USA

来源：

MITOCHONDRION | 2011年 / 11卷 / 04期

关键词：

Mitochondrial DNA; Mitochondrial disease; Heteroplasmy; MELAS; Mitochondrial tRNA; Penetrance; TRANSFER-RNA; MELAS; MYOPATHY;

D O I：

10.1016/j.mito.2011.04.003

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

An m.1630A>G mutation in the mitochondrial tRNA(va1) (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. (C) 2011 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

引用

页码：615 / 619

页数：5

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