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

Ivo Barić; Ksenija Fumić; Danijela Petković Ramadža; Wolfgang Sperl; Franz A Zimmermann; Diana Muačević-Katanec; Zoran Mitrović; Leo Pažanin; Ljerka Cvitanović Šojat; Tihomir Kekez; Zeljko Reiner; Johannes A Mayr

doi:10.1038/ejhg.2012.272

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

Ivo Barić, Ksenija Fumić, Danijela Petković Ramadža, Wolfgang Sperl (Co-author), Franz A Zimmermann (Co-author), Diana Muačević-Katanec, Zoran Mitrović, Leo Pažanin, Ljerka Cvitanović Šojat, Tihomir Kekez, Zeljko Reiner, Johannes A Mayr (Last author)

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

11 Citations (Web of Science)

Abstract

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.

Original language	English
Pages (from-to)	871-875
Number of pages	5
Journal	EUROPEAN JOURNAL OF HUMAN GENETICS
Volume	21
Issue number	8
DOIs	https://doi.org/10.1038/ejhg.2012.272
Publication status	Published - Aug 2013

Keywords

Adolescent
Base Sequence
DNA Mutational Analysis
DNA, Mitochondrial/chemistry
Electron Transport Complex I/metabolism
Electron Transport Complex IV/metabolism
Humans
Immunohistochemistry
Male
Microscopy, Electron
Mitochondrial Myopathies/genetics
Molecular Sequence Data
Muscle Fibers, Slow-Twitch/metabolism
Point Mutation
RNA, Transfer, Trp/genetics
Sequence Homology, Nucleic Acid

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10.1038/ejhg.2012.272

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Barić, I., Fumić, K., Petković Ramadža, D., Sperl, W., Zimmermann, F. A., Muačević-Katanec, D., Mitrović, Z., Pažanin, L., Cvitanović Šojat, L., Kekez, T., Reiner, Z., & Mayr, J. A. (2013). Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene. EUROPEAN JOURNAL OF HUMAN GENETICS , 21(8), 871-875. https://doi.org/10.1038/ejhg.2012.272

Barić, Ivo ; Fumić, Ksenija ; Petković Ramadža, Danijela et al. / Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene. In: EUROPEAN JOURNAL OF HUMAN GENETICS 2013 ; Vol. 21, No. 8. pp. 871-875.

@article{76ccd7b20673449baba4bc3d54946cf2,

title = "Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene",

abstract = "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.",

keywords = "Adolescent, Base Sequence, DNA Mutational Analysis, DNA, Mitochondrial/chemistry, Electron Transport Complex I/metabolism, Electron Transport Complex IV/metabolism, Humans, Immunohistochemistry, Male, Microscopy, Electron, Mitochondrial Myopathies/genetics, Molecular Sequence Data, Muscle Fibers, Slow-Twitch/metabolism, Point Mutation, RNA, Transfer, Trp/genetics, Sequence Homology, Nucleic Acid",

author = "Ivo Bari{\'c} and Ksenija Fumi{\'c} and {Petkovi{\'c} Ramad{\v z}a}, Danijela and Wolfgang Sperl and Zimmermann, {Franz A} and Diana Mua{\v c}evi{\'c}-Katanec and Zoran Mitrovi{\'c} and Leo Pa{\v z}anin and {Cvitanovi{\'c} {\v S}ojat}, Ljerka and Tihomir Kekez and Zeljko Reiner and Mayr, {Johannes A}",

note = "Sperl, Zimmermann, Mayr: Department of Paediatrics, Paracelsus Medical University, Salzburg, Austria",

year = "2013",

month = aug,

doi = "10.1038/ejhg.2012.272",

language = "English",

volume = "21",

pages = "871--875",

journal = "EUROPEAN JOURNAL OF HUMAN GENETICS ",

issn = "1018-4813",

publisher = "Springer Nature",

number = "8",

}

Barić, I, Fumić, K, Petković Ramadža, D, Sperl, W , Zimmermann, FA, Muačević-Katanec, D, Mitrović, Z, Pažanin, L, Cvitanović Šojat, L, Kekez, T, Reiner, Z & Mayr, JA 2013, 'Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene', EUROPEAN JOURNAL OF HUMAN GENETICS , vol. 21, no. 8, pp. 871-875. https://doi.org/10.1038/ejhg.2012.272

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene. / Barić, Ivo; Fumić, Ksenija; Petković Ramadža, Danijela et al.
In: EUROPEAN JOURNAL OF HUMAN GENETICS , Vol. 21, No. 8, 08.2013, p. 871-875.

Research output: Contribution to journal › Original Article › peer-review

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 -

Barić I, Fumić K, Petković Ramadža D, Sperl W , Zimmermann FA, Muačević-Katanec D et al. Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene. EUROPEAN JOURNAL OF HUMAN GENETICS . 2013 Aug;21(8):871-875. doi: 10.1038/ejhg.2012.272

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

Abstract

Keywords

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