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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2012-03

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

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. More... »

PAGES

ejhg2011238

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ejhg.2011.238

DOI

http://dx.doi.org/10.1038/ejhg.2011.238

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1008209924

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/22189266


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