Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene

被引：11

作者：

Baric, Ivo ^{[1
,2
]}

Fumic, Ksenija ^{[3
]}

Ramadza, Danijela Petkovic ^{[1
]}

Sperl, Wolfgang ^{[4
]}

Zimmermann, Franz A. ^{[4
]}

Muacevic-Katanec, Diana ^{[2
,5
]}

Mitrovic, Zoran ^{[6
,7
]}

Pazanin, Leo ^{[8
]}

Sojat, Ljerka Cvitanovic ^{[9
]}

Kekez, Tihomir ^{[10
]}

Reiner, Zeljko ^{[2
,5
]}

Mayr, Johannes A. ^{[4
]}

机构：

[1] Univ Hosp Ctr Zagreb, Dept Paediat, Zagreb 10000, Croatia

[2] Univ Zagreb, Sch Med, Zagreb 41001, Croatia

[3] Univ Hosp Ctr Zagreb, Dept Paediat, Clin Inst Lab Diag, Zagreb 10000, Croatia

[4] Paracelsus Med Univ, Dept Paediat, Salzburg, Austria

[5] Univ Hosp Ctr Zagreb, Dept Internal Med, Zagreb 10000, Croatia

[6] Univ Hosp Ctr Zagreb, Natl Ctr Neuromuscular Dis, Zagreb 10000, Croatia

[7] Univ Hosp Ctr Zagreb, Dept Neurol, Zagreb 10000, Croatia

[8] Univ Hosp Ctr Zagreb, Clin Inst Pathol & Cytol, Zagreb 10000, Croatia

[9] Univ Hosp Ctr Sestre Milosrdnice, Dept Paediat, Zagreb, Croatia

[10] Univ Hosp Ctr Zagreb, Dept Surg, Zagreb 10000, Croatia

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2013年 / 21卷 / 08期

关键词：

mitochondrial myopathy; mtDNA mutation; tRNA(Trp); TRANSFER-RNA; POINT MUTATION; DNA; GENOME; ENCEPHALOPATHY; PATHOGENICITY; DEFICIENCY; DISORDERS; INSERTION;

D O I：

10.1038/ejhg.2012.272

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

We report a novel pathogenic mutation of the mitochondrial transfer RNA (tRNA) gene for tryptophan in a patient with isolated myopathy and persistently elevated creatine kinase. Muscle studies revealed ragged red fibres and decreased activity of respiratory chain complex I and cytochrome c oxidase (COX). Sequencing of the 22 mitochondrial tRNA genes revealed a mutation m.5522G>A, which alters a conserved base pairing in the D-stem of the tRNA for tryptophan. The mutation was heteroplasmic with a mutational load between 88 and 99% in COX-negative fibres. This case contributes to the genetic heterogeneity of mitochondrial diseases caused by mutations in mitochondrial tRNA genes.

引用

页码：871 / 875

页数：5

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Mitochondrial myopathy associated with a novel 5522G&gt;A mutation in the mitochondrial tRNATrp gene

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNATrp gene