|Title||A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.|
|Publication Type||Journal Article|
|Year of Publication||2003|
|Authors||Crimi, M, Galbiati, S, Moroni, I, Bordoni, A, Perini, MPaola, Lamantea, E, Sciacco, M, Zeviani, M, Biunno, I, Moggio, M, Scarlato, G, Comi, GPietro|
|Date Published||2003 Jun 10|
|Keywords||Adolescent, Amino Acid Sequence, Base Sequence, Brain, Electron Transport Complex I, Genetic Predisposition to Disease, Humans, Leigh Disease, Magnetic Resonance Imaging, Male, MELAS Syndrome, Mitochondrial Proteins, Molecular Sequence Data, Mutation, Missense, Sequence Alignment|
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.