Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1915539 | Journal of the Neurological Sciences | 2008 | 4 Pages |
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 tRNALeu(CUN) gene. This change destroys a highly conserved G–C base coupling in tRNA TψC 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 tRNALeu(CUN) pathogenic mutation described up to date.
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Authors
E. Cardaioli, 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,