Article
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
Human molecular genetics - 15 Aug 2008
Ashley Neil, O'Rourke Anthony, Smith Conrad, Adams Susan, Gowda Vasantha, Zeviani Massimo, Brown Garry K, Fratter Carl, Poulton Joanna
Abstract excerpt
We investigated clinical and cellular phenotypes of 24 children with mutations in the catalytic (alpha) subunit of the mitochondrial DNA (mtDNA) gamma polymerase (POLG1). Twenty-one had Alpers syndrome, the commonest severe POLG1 autosomal recessive phenotype, comprising hepatoencephalopathy and often mtDNA depletion. The cellular mtDNA content reflected the genotype more closely than did clinical features....
Topics
- Adolescent
- Cells, Cultured
- Child
- Child, Preschool
- DNA Polymerase gamma
- DNA, Mitochondrial
- DNA-Directed DNA Polymerase
- Diffuse Cerebral Sclerosis of Schilder
- Female
- Fibroblasts
- Genotype
- Humans
- Infant