The novel mitochondrial tRNA Asn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment

Dario Ronchi, Monica Sciacco, Andreina Bordoni, Monika Raimondi, Michela Ripolone, Elisa Fassone, Alessio Di Fonzo, Mafalda Rizzuti, Patrizia Ciscato, Alessandra Cosi, Maura Servida, Maurizio Moggio, Stefania Corti, Nereo Bresolin, Giacomo P. Comi

Research output: Contribution to journalArticle

Abstract

Although mutations in mitochondrial tRNAs constitute the most common mtDNA defect, the presence of pathological variants in mitochondrial tRNA Asn is extremely rare. We were able to identify a novel mtDNA tRNA Asn gene pathogenic mutation associated with a myopathic phenotype and a previously unreported respiratory impairment. Our proband is an adult woman with ophthalmoparesis and respiratory impairment. Her muscle biopsy presented several cytochrome c oxidase-negative (COX) fibres and signs of mitochondrial proliferation (ragged red fibres). Sequence analysis of the muscle-derived mtDNA revealed an m.5709T>C substitution, affecting mitochondrial tRNA Asn gene. Restriction-fragment length polymorphism analysis of the mutation in isolated muscle fibres showed that a threshold of at least 91.9% mutated mtDNA results in the COX deficiency phenotype. The new phenotype further increases the clinical spectrum of mitochondrial diseases caused by mutations in the tRNA Asn gene.

Original languageEnglish
Pages (from-to)357-360
Number of pages4
JournalEuropean Journal of Human Genetics
Volume20
Issue number3
DOIs
Publication statusPublished - Mar 2012

Keywords

  • mitochondrial myopathy
  • progressive external ophthalmoplegia
  • tRNA(Asn)

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

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