title: POLG mutations and Alpers syndrome.
abstract: Alpers-Huttenlocher syndrome (AHS) an autosomal recessive hepatocerebral syndrome of early onset, has been associated with mitochondrial DNA (mtDNA) depletion and mutations in polymerase gamma gene (POLG). We have identified POLG mutations in four patients with hepatocerebral syndrome and mtDNA depletion in liver, who fulfilled criteria for AHS. All were compound heterozygous for the G848S and W748S mutations, previously reported in patients with progressive external ophtalmoplegia or ataxia. We conclude that AHS should be included in the clinical spectrum of mtDNA depletion and is often associated with POLG mutations, which can cause either multiple mtDNA deletions or mtDNA depletion.
authors.affiliation: Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
authors.forename: Guido
authors.initials: G
authors.lastname: Davidzon
authors.forename: Michelangelo
authors.initials: M
authors.lastname: Mancuso
authors.forename: Silvio
authors.initials: S
authors.lastname: Ferraris
authors.forename: Catarina
authors.initials: C
authors.lastname: Quinzii
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.forename: Heidi L
authors.initials: HL
authors.lastname: Peters
authors.forename: Denise
authors.initials: D
authors.lastname: Kirby
authors.forename: David R
authors.initials: DR
authors.lastname: Thorburn
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D002675:Child, Preschool; D000074002:DNA Polymerase gamma; D004272:DNA, Mitochondrial / Q000378:metabolism; D004259:DNA-Directed DNA Polymerase / Q000235:genetics*; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics*; D005260:Female; D006501:Hepatic Encephalopathy / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000502:physiology; D008297:Male; D020125:Mutation, Missense
chemical_list: D004272:DNA, Mitochondrial; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human