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Springer Nature [academic journals on nature.com], European Journal of Human Genetics, 3(20), p. 357-360, 2011

DOI: 10.1038/ejhg.2011.238

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

Journal article published in 2011 by Dario Ronchi, Monica Sciacco, Andreina Bordoni, Monika Raimondi, Michela Ripolone ORCID, Elisa Fassone, Alessio Di Fonzo ORCID, Mafalda Rizzuti, Patrizia Ciscato, Alessandra Cosi, Maura Servida, Maurizio Moggio, Stefania Corti ORCID, Nereo Bresolin, Gp Comi ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.