title: A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy.
abstract: We studied a patient with ptosis, ophthalmoparesis, and exercise intolerance who showed in her muscle biopsy ragged-red fibers and combined defects of the complexes I and IV of the mitochondrial respiratory chain. Molecular analysis revealed a T3273C transition in the mitochondrial DNA tRNA(Leu(UUR)) gene. The mutation was heteroplasmic and very abundant in muscle from the proposita, less abundant in her other tissues studied, and still less abundant in blood from her maternal relatives. Single muscle fiber analysis showed significantly higher levels of mutant genomes in ragged-red fibers than in normal fibers. The T3273C mutation affects a strictly conserved base pair in the anticodon stem and was not found in controls, thus satisfying the accepted criteria for pathogenicity.
authors.affiliation: Centro de Investigación, Hospital 12 de Octubre, Avda de Córdoba km 5.4, 28041, Madrid, Spain.
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: J
authors.initials: J
authors.lastname: Gámez
authors.forename: A
authors.initials: A
authors.lastname: García
authors.forename: A L
authors.initials: AL
authors.lastname: Andreu
authors.forename: J C
authors.initials: JC
authors.lastname: Rubio
authors.forename: M A
authors.initials: MA
authors.lastname: Martín
authors.forename: P
authors.initials: P
authors.lastname: del Hoyo
authors.forename: C
authors.initials: C
authors.lastname: Navarro
authors.forename: C
authors.initials: C
authors.lastname: Cervera
authors.forename: R
authors.initials: R
authors.lastname: Garesse
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D017246:Ophthalmoplegia, Chronic Progressive External / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D012356:RNA, Transfer, Leu / Q000737:chemistry / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012356:RNA, Transfer, Leu