A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
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.
Crimi
Marco
M
Dino Ferrari Center, Department of Neurological Sciences, University of Milan, I.R.C.C.S. Ospedale Maggiore Policlinico, Italy. neurogene@policlinico.mi.it
Galbiati
Sara
S
Moroni
Isabella
I
Bordoni
Andreina
A
Perini
Maria Paola
MP
Lamantea
Eleonora
E
Sciacco
Monica
M
Zeviani
Massimo
M
Biunno
Ida
I
Moggio
Maurizio
M
Scarlato
Guglielmo
G
Comi
Giacomo Pietro
GP
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
D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I