A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

TitleA novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.
Publication TypeJournal Article
Year of Publication2002
AuthorsLamantea, E, Carrara, F, Mariotti, C, Morandi, L, Tiranti, V, Zeviani, M
JournalNeuromuscul Disord
Volume12
Issue1
Pagination49-52
Date Published2002 Jan
ISSN0960-8966
KeywordsAdult, Codon, Nonsense, Cytochrome b Group, DNA, Mitochondrial, Electron Transport, Electron Transport Complex I, Electron Transport Complex III, Female, Humans, Mitochondria, Muscle, Skeletal, Muscular Diseases, NADH, NADPH Oxidoreductases
Abstract

We identified a novel mitochondrial cytochrome b mutation in a patient with progressive exercise intolerance, muscle cramps and lactic acidosis. A marked reduction of the enzymatic activities of respiratory chain complexes I and III was found in muscle biopsy. The mutation was a heteroplasmic C15800T transition, determining a stop-codon at amino acid position 352 (Q352X). Mutant mtDNA was approximately 45% of total genomes in muscle, while it was absent in all of the other examined tissues of the patient and in lymphocytes of the patient's mother. Clinical presentation and laboratory findings strongly support the hypothesis that this mutation is the primary cause of the disease in our patient.

DOI10.1016/s0960-8966(01)00244-9
Alternate JournalNeuromuscul. Disord.
Citation Key10.1016/s0960-8966(01)00244-9
PubMed ID11731284
Grant List1180 / / Telethon / Italy