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Scientific article
Case report
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Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome

Published inBMC neurology, vol. 11, 4
Publication date2011
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 Techniques
  • Child, Preschool
  • DNA, Mitochondrial/metabolism
  • DNA-Directed DNA Polymerase/genetics
  • Diffuse Cerebral Sclerosis of Schilder/genetics/metabolism
  • Fibroblasts/metabolism
  • Humans
  • Liver/metabolism
  • Male
  • Muscle, Skeletal/metabolism
  • Mutation/genetics
  • Oxidative Phosphorylation
  • Sequence Analysis, DNA/methods
Citation (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
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Article (Published version)
Identifiers
ISSN of the journal1471-2377
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