Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

被引：14

作者：

Arredondo, Juan J. ^{[1
]}

Esther Gallardo, M. ^{[1
,2
]}

Garcia-Pavia, Pablo ^{[3
,4
]}

Domingo, Veronica ^{[1
]}

Breton, Begona ^{[1
]}

Teresa Garcia-Silva, M. ^{[5
]}

Jesus Sedano, M. ^{[6
]}

Martin, Miguel A. ^{[2
,7
]}

Arenas, Joaquin ^{[2
,7
]}

Cervera, Margarita ^{[1
]}

Garesse, Rafael ^{[1
,2
]}

Bornstein, Belen ^{[1
,2
,8
]}

机构：

[1] Univ Autonoma Madrid, Fac Med, CSIC, Dept Bioquim,Inst Invest Biomed Alberto Sols, E-28029 Madrid, Spain

[2] CIBERER, Madrid, Spain

[3] Hosp Univ Puerta de Hierro, Serv Cardiol, Madrid, Spain

[4] Red Invest Clin & Basica Insuficiencia Cardiaca R, Madrid, Spain

[5] Hosp Univ 12 Octubre, Serv Pediat, Madrid, Spain

[6] Hosp Gen Yague, Serv Neurol, Burgos, Spain

[7] Hosp Univ 12 Octubre, Ctr Invest, Lab Enfermedades Mitocondriales, Madrid, Spain

[8] Hosp Univ Puerta de Hierro, Serv Bioquim, Madrid, Spain

来源：

MITOCHONDRION | 2012年 / 12卷 / 02期

关键词：

Mitochondrial DNA; m.1628C > T; m.1644G > A; Mitochondrial tRNA quantification; Mitochondrial diseases; Mitochondrial cardiomyopathies; LACTIC-ACIDOSIS; DNA; GENE; TRNA(LYS); SEQUENCE; AMINOACYLATION; PATHOGENICITY; MYOPATHY; HISTORY;

D O I：

10.1016/j.mito.2011.09.010

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The aim of this study was to identify the genetic defect in two patients having cardiac dysfunction accompanied by neurological symptoms, and in one case MRI evidence of cortical and cerebellar atrophy with hyper-intensities in the basal ganglia. Muscle biopsies from each patient revealed single and combined mitochondrial respiratory chain deficiency. The complete mtDNA sequencing of both patients revealed two transitions in the mitochondrial tRNA(Val) gene (MT-TV) (m.1628C>T in Patient 1, and m.1644G>A in Patient 2). The functional and molecular analyses reported here suggest that the MT-TV gene should be routinely considered in the diagnosis of mitochondrial cardiomyopathies. (C) 2011 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

引用

页码：357 / 362

页数：6

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