title: Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.
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.
authors.affiliation: Department of Neurological and Behavioural Sciences, University of Siena, Viale Bracci 2, Siena, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Cardaioli
authors.forename: P
authors.initials: P
authors.lastname: Da Pozzo
authors.forename: E
authors.initials: E
authors.lastname: Malfatti
authors.forename: G N
authors.initials: GN
authors.lastname: Gallus
authors.forename: A
authors.initials: A
authors.lastname: Rubegni
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: C
authors.initials: C
authors.lastname: Gaudiano
authors.forename: L
authors.initials: L
authors.lastname: Guidi
authors.forename: G
authors.initials: G
authors.lastname: Serni
authors.forename: G
authors.initials: G
authors.lastname: Berti
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology; D009154:Mutation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics* / Q000473:pathology; D012356:RNA, Transfer, Leu / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu