UNIGE document Scientific Article - Case report
previous document  unige:25296  next document
add to browser collection

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

Schaller, André
Hahn, Dagmar
Jackson, Christopher B
Gallati, Sabina
Nuoffer, Jean-Marc
Published in BMC neurology. 2011, vol. 11, 4
Abstract DNA polymerase γ (POLG) is the only known mitochondrial DNA (mtDNA) polymerase. It mediates mtDNA replication and base excision repair. Mutations in the POLG gene lead to reduction of functional mtDNA (mtDNA depletion and/or deletions) and are therefore predicted to result in defective oxidative phosphorylation (OXPHOS). Many mutations map to the polymerase and exonuclease domains of the enzyme and produce a broad clinical spectrum. The most frequent mutation p.A467T is localised in the linker region between these domains. In compound heterozygote patients the p.A467T mutation has been described to be associated amongst others with fatal childhood encephalopathy. These patients have a poorer survival rate compared to homozygotes.
Keywords Cell Culture TechniquesChild, PreschoolDNA, Mitochondrial/metabolismDNA-Directed DNA Polymerase/geneticsDiffuse Cerebral Sclerosis of Schilder/genetics/metabolismFibroblasts/metabolismHumansLiver/metabolismMaleMuscle, Skeletal/metabolismMutation/geneticsOxidative PhosphorylationSequence Analysis, DNA/methods
PMID: 21235791
Full text
Article (Published version) (414 Kb) - public document Free access
Research groups Gastroentérologie et transplantation (pédiatrie) (181)
Recherche clinique en chirurgie pédiatrique (886)
(ISO format)
SCHALLER, André et al. Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome. In: BMC neurology, 2011, vol. 11, p. 4. doi: 10.1186/1471-2377-11-4 https://archive-ouverte.unige.ch/unige:25296

494 hits



Deposited on : 2013-01-10

Export document
Format :
Citation style :