The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and respiratory impairment
Articolo
Data di Pubblicazione:
2010
Citazione:
The m.12316G>A mutation in the mitochondrial tRNA Leu(CUN) gene is associated with mitochondrial myopathy and
respiratory impairment / D. Ronchi, R. Virgilio, A. Bordoni, E. Fassone, M. Sciacco, P. Ciscato, M. Moggio, A. Govoni, S. Corti, N. Bresolin, G.P. Comi. - In: JOURNAL OF THE NEUROLOGICAL SCIENCES. - ISSN 0022-510X. - 292:1-2(2010 May 15), pp. 107-110. [10.1016/j.jns.2010.01.026]
Abstract:
Mitochondrial disorders are often associated with mutations in mitochondrial tRNA. Independent observation of the same molecular defect in unrelated subjects is a generally required proof of pathogenicity. A sporadic case of chronic external ophthalmoplegia (cPEO) with ragged red fibres (RRFs) has been previously related to an m.12316G>A substitution in tRNALeu(CUN).
Sequencing muscle-derived mtDNA, we found the m.12316G>A substitution in an adult woman with mitochondrial myopathy and respiratory impairment. Her muscle biopsy presented several cytochrome c oxidase-negative (COX−) fibres, and RRFs as signs of mitochondrial proliferation. Restriction-fragment length polymorphism (RFLP) analysis of the mutation in isolated muscle fibres showed a threshold of at least 60% of mutated mtDNA to determine a COX deficiency phenotype. This second report of the m.12316G>A mutation in a sporadic patient consolidates its pathogenic nature and provides further elements for genetic counselling.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Late-onset myopathy; mtDNA; tRNALeu(CUN)
Elenco autori:
D. Ronchi, R. Virgilio, A. Bordoni, E. Fassone, M. Sciacco, P. Ciscato, M. Moggio, A. Govoni, S. Corti, N. Bresolin, G.P. Comi
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