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


BACKGROUND 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… (More)
DOI: 10.1186/1471-2377-11-4


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