Naslov
Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene

Autori
Barić, Ivo ; Fumić, Ksenija ; Petković Ramadža, Danijela ; Sperl, W. ; Zimmermann, F.A. ; Muačević-Katanec, Diana ; Mitrović, Zoran ; Pažanin, Leo ; Cvitanović Šojat, Ljerka ; Kekez, Tihomir ; Reiner, Zeljko ; Mayr, J.A.

Izvornik
European journal of human genetics (1018-4813) 21 (2013), 8; 871-875

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
mitochondrial myopathy; novel 5522G>A mutation

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA