title: Identification of a new mtDNA mutation (14724G>A) associated with mitochondrial leukoencephalopathy.
abstract: We report a novel 14724G>A mutation in the mitochondrial tRNA glutamic acid gene in a 4-year-old boy with myopathy and leukoencephalopathy. A muscle biopsy showed cytochrome c oxidase-negative ragged-red fibers and biochemical analysis of the respiratory chain enzymes in muscle homogenate revealed partial complex I and complex IV deficiencies. The mutation, which affects the dihydrouridine arm at a conserved site, was nearly homoplasmic in muscle and heteroplasmic in blood DNA of the proband, but it was absent in peripheral leukocytes from the asymptomatic mother, sister, and two maternal aunts, suggesting that it arose de novo. This report proposes to look for variants in the mitochondrial genome when dealing with otherwise undetermined leukodystrophies of childhood.
authors.affiliation: Instituto de Genética Médica Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.
authors.forename: Cristina
authors.initials: C
authors.lastname: Pereira
authors.forename: Celia
authors.initials: C
authors.lastname: Nogueira
authors.forename: Clara
authors.initials: C
authors.lastname: Barbot
authors.forename: Alessandra
authors.initials: A
authors.lastname: Tessa
authors.forename: Carla
authors.initials: C
authors.lastname: Soares
authors.forename: Fabiana
authors.initials: F
authors.lastname: Fattori
authors.forename: António
authors.initials: A
authors.lastname: Guimarães
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: Laura
authors.initials: L
authors.lastname: Vilarinho
mesh_terms: D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D042967:Electron Transport Complex I / Q000172:deficiency / Q000235:genetics; D003576:Electron Transport Complex IV / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D012352:RNA, Transfer, Glu / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012352:RNA, Transfer, Glu; D003576:Electron Transport Complex IV; D042967:Electron Transport Complex I