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Title

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

Authors
Schaller, André
Hahn, Dagmar
Jackson, Christopher B
Gallati, Sabina
Nuoffer, Jean-Marc
Published in BMC Neurology. 2011, vol. 11, p. 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
Identifiers
PMID: 21235791
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Article (Published version) (414 Kb) - document accessible for UNIGE members only Limited access to UNIGE
Structures
Research groups Gastroentérologie et transplantation (pédiatrie) (181)
Groupe Wildhaber Barbara (chirurgie pédiatrique) (886)
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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. https://archive-ouverte.unige.ch/unige:25296

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Deposited on : 2013-01-10

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