The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment
Articolo
Data di Pubblicazione:
2012
Citazione:
The novel mitochondrial tRNAAsn gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment / D. Ronchi, M. Sciacco, A. Bordoni, M. Raimondi, M. Ripolone, E. Fassone, A. Di Fonzo, M. Rizzuti, P. Ciscato, A. Cosi, M. Servida, M. Moggio, S. Corti, N. Bresolin, G. P. Comi. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - 20:3(2012 Mar), pp. 357-360.
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 tRNAAsn 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 tRNAAsn gene.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
progressive external ophthalmoplegia; tRNA(Asn); mitochondrial myopathy
Elenco autori:
D. Ronchi, M. Sciacco, A. Bordoni, M. Raimondi, M. Ripolone, E. Fassone, A. Di Fonzo, M. Rizzuti, P. Ciscato, A. Cosi, M. Servida, M. Moggio, S. Corti, N. Bresolin, G. P. Comi
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