TY - JOUR
T1 - Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene
AU - Barić, Ivo
AU - Fumić, Ksenija
AU - Petković Ramadža, Danijela
AU - Sperl, Wolfgang
AU - Zimmermann, Franz A
AU - Muačević-Katanec, Diana
AU - Mitrović, Zoran
AU - Pažanin, Leo
AU - Cvitanović Šojat, Ljerka
AU - Kekez, Tihomir
AU - Reiner, Zeljko
AU - Mayr, Johannes A
N1 - Sperl, Zimmermann, Mayr: Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria
PY - 2013/8
Y1 - 2013/8
N2 - 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.
AB - 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.
KW - Adolescent
KW - Base Sequence
KW - DNA Mutational Analysis
KW - DNA, Mitochondrial/chemistry
KW - Electron Transport Complex I/metabolism
KW - Electron Transport Complex IV/metabolism
KW - Humans
KW - Immunohistochemistry
KW - Male
KW - Microscopy, Electron
KW - Mitochondrial Myopathies/genetics
KW - Molecular Sequence Data
KW - Muscle Fibers, Slow-Twitch/metabolism
KW - Point Mutation
KW - RNA, Transfer, Trp/genetics
KW - Sequence Homology, Nucleic Acid
U2 - 10.1038/ejhg.2012.272
DO - 10.1038/ejhg.2012.272
M3 - Original Article
C2 - 23232693
SN - 1018-4813
VL - 21
SP - 871
EP - 875
JO - EUROPEAN JOURNAL OF HUMAN GENETICS
JF - EUROPEAN JOURNAL OF HUMAN GENETICS
IS - 8
ER -