title: A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
abstract: A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analysis revealed partial complex I deficiency. The mutation presented a variable degree of heteroplasmy in the patient's tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy.
authors.affiliation: Dino Ferrari Center, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Ospedale Maggiore Policlinico, Italy. neurogene@policlinico.mi.it
authors.forename: Marco
authors.initials: M
authors.lastname: Crimi
authors.forename: Sara
authors.initials: S
authors.lastname: Galbiati
authors.forename: Isabella
authors.initials: I
authors.lastname: Moroni
authors.forename: Andreina
authors.initials: A
authors.lastname: Bordoni
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Perini
authors.forename: Eleonora
authors.initials: E
authors.lastname: Lamantea
authors.forename: Monica
authors.initials: M
authors.lastname: Sciacco
authors.forename: Massimo
authors.initials: M
authors.lastname: Zeviani
authors.forename: Ida
authors.initials: I
authors.lastname: Biunno
authors.forename: Maurizio
authors.initials: M
authors.lastname: Moggio
authors.forename: Guglielmo
authors.initials: G
authors.lastname: Scarlato
authors.forename: Giacomo Pietro
authors.initials: GP
authors.lastname: Comi
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D042967:Electron Transport Complex I / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007888:Leigh Disease / Q000175:diagnosis / Q000235:genetics*; D017241:MELAS Syndrome / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D016415:Sequence Alignment
chemical_list: D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I