The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.
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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.
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| Authors | 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 |
| Journal | European journal of human genetics : EJHG (Eur J Hum Genet) Vol. 20 Issue 3 Pg. 357-60 (Mar 2012) ISSN: 1476-5438 [Electronic] England |
| PMID | 22189266 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't) |
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