Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

TitleMutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
Publication TypeJournal Article
Year of Publication2002
AuthorsLamantea, E, Tiranti, V, Bordoni, A, Toscano, A, Bono, F, Servidei, S, Papadimitriou, A, Spelbrink, H, Silvestri, L, Casari, G, Comi, GP, Zeviani, M
JournalAnn Neurol
Volume52
Issue2
Pagination211-9
Date Published2002 Aug
ISSN0364-5134
KeywordsAmino Acid Sequence, DNA Polymerase gamma, DNA-Directed DNA Polymerase, Genes, Dominant, Genes, Recessive, Heterozygote, Humans, Molecular Sequence Data, Mutation, Missense, Ophthalmoplegia, Pedigree
Abstract

One form of familial progressive external ophthalmoplegia with multiple mitochondrial DNA deletions recently has been associated with mutations in POLG1, the gene encoding pol gammaA, the catalytic subunit of mitochondrial DNA polymerase. We screened the POLG1 gene in several PEO families and identified five different heterozygous missense mutations of POLG1 in 10 autosomal dominant families. Recessive mutations were found in three families. Our data show that mutations of POLG1 are the most frequent cause of familial progressive external ophthalmoplegia associated with accumulation of multiple mitochondrial DNA deletions, accounting for approximately 45% of our family cohort.

DOI10.1002/ana.10278
Alternate JournalAnn. Neurol.
Citation Key10.1002/ana.10278
PubMed ID12210792