Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene

Research output: Contribution to journalArticle

Abstract

We report an 11-year-old boy with exercise-related myopathy, and a novel mutation m.5669G>A in the mitochondrial tRNA Asparagine gene (mt-tRNA Asn, MTTN). Muscle biopsy studies showed COX-negative, SDH-positive fibers at histochemistry and biochemical defects of oxidative metabolism. The m.5669G>A mutation was present only in patient's muscle resulting in the first muscle-specific MTTN mutation. Mt-tRNA Asn steady-state levels and in silico predictions supported the pathogenicity of this mutation. A mitochondrial myopathy should be considered in the differential diagnosis of exercise intolerance in children.

Original languageEnglish
Pages (from-to)518-521
Number of pages4
JournalBiochemical and Biophysical Research Communications
Volume412
Issue number4
DOIs
Publication statusPublished - Sep 9 2011

Fingerprint

RNA, Transfer, Asn
Mitochondrial Myopathies
Gene transfer
Muscle
Muscles
Mutation
Genes
Biopsy
Asparagine
Exercise
Transfer RNA
Metabolism
Muscular Diseases
Computer Simulation
Virulence
Defects
Differential Diagnosis
Fibers

Keywords

  • Exercise intolerance
  • Mitochondrial myopathy
  • Mt-tRNA gene

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology
  • Molecular Biology

Cite this

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abstract = "We report an 11-year-old boy with exercise-related myopathy, and a novel mutation m.5669G>A in the mitochondrial tRNA Asparagine gene (mt-tRNA Asn, MTTN). Muscle biopsy studies showed COX-negative, SDH-positive fibers at histochemistry and biochemical defects of oxidative metabolism. The m.5669G>A mutation was present only in patient's muscle resulting in the first muscle-specific MTTN mutation. Mt-tRNA Asn steady-state levels and in silico predictions supported the pathogenicity of this mutation. A mitochondrial myopathy should be considered in the differential diagnosis of exercise intolerance in children.",
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author = "Claudio Bruno and Denise Cassandrini and Fabiana Fattori and Marina Pedemonte and Chiara Fiorillo and Giorgia Brigati and Giacomo Brisca and Carlo Minetti and Santorelli, {Filippo M.}",
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T1 - Mitochondrial myopathy in a child with a muscle-restricted mutation in the mitochondrial transfer RNAAsn gene

AU - Bruno, Claudio

AU - Cassandrini, Denise

AU - Fattori, Fabiana

AU - Pedemonte, Marina

AU - Fiorillo, Chiara

AU - Brigati, Giorgia

AU - Brisca, Giacomo

AU - Minetti, Carlo

AU - Santorelli, Filippo M.

PY - 2011/9/9

Y1 - 2011/9/9

N2 - We report an 11-year-old boy with exercise-related myopathy, and a novel mutation m.5669G>A in the mitochondrial tRNA Asparagine gene (mt-tRNA Asn, MTTN). Muscle biopsy studies showed COX-negative, SDH-positive fibers at histochemistry and biochemical defects of oxidative metabolism. The m.5669G>A mutation was present only in patient's muscle resulting in the first muscle-specific MTTN mutation. Mt-tRNA Asn steady-state levels and in silico predictions supported the pathogenicity of this mutation. A mitochondrial myopathy should be considered in the differential diagnosis of exercise intolerance in children.

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KW - Exercise intolerance

KW - Mitochondrial myopathy

KW - Mt-tRNA gene

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