| Literature DB >> 18603265 |
E Cardaioli1, P Da Pozzo, E Malfatti, G N Gallus, A Rubegni, A Malandrini, C Gaudiano, L Guidi, G Serni, G Berti, M T Dotti, A Federico.
Abstract
We sequenced all genes of mitochondrial tRNAs of a patient with chronic progressive external ophthalmoplegia with 5% ragged red fibres and 15% COX-negative fibres but without macrorearrangements of mitochondrial DNA (mtDNA). Direct sequencing showed a novel heteroplasmic G>A substitution in position 12316 of tRNA(Leu(CUN)) gene. This change destroys a highly conserved G-C base coupling in tRNA TpsiC branch. By RFLP analysis we could demonstrate different degrees of heteroplasmy in different patient's tissues. This alteration, absent in a population of 110 patients with different encephalomyopathies, can be considered pathogenic: it is the tenth tRNA(Leu(CUN)) pathogenic mutation described up to date.Entities:
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Year: 2008 PMID： 18603265 DOI： 10.1016/j.jns.2008.05.005
Source DB: PubMed Journal: J Neurol Sci ISSN： 0022-510X Impact factor: 3.181