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

Eleonora Lamantea, Valeria Tiranti, Andreina Bordoni, Antonio Toscano, Francesco Bono, Serena Servidei, Alex Papadimitriou, Hans Spelbrink, Laura Silvestri, Giorgio Casari, Giacomo P. Comi, Massimo Zeviani

Research output: Contribution to journalArticle

207 Citations (Scopus)

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 γA, 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.

Original languageEnglish
Pages (from-to)211-219
Number of pages9
JournalAnnals of Neurology
Volume52
Issue number2
DOIs
Publication statusPublished - 2002

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Chronic Progressive External Ophthalmoplegia
Mitochondrial DNA
Mutation
pol Genes
Missense Mutation
DNA-Directed DNA Polymerase
Catalytic Domain
Genes
DNA polymerase A

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. / Lamantea, Eleonora; Tiranti, Valeria; Bordoni, Andreina; Toscano, Antonio; Bono, Francesco; Servidei, Serena; Papadimitriou, Alex; Spelbrink, Hans; Silvestri, Laura; Casari, Giorgio; Comi, Giacomo P.; Zeviani, Massimo.

In: Annals of Neurology, Vol. 52, No. 2, 2002, p. 211-219.

Research output: Contribution to journalArticle

Lamantea, Eleonora ; Tiranti, Valeria ; Bordoni, Andreina ; Toscano, Antonio ; Bono, Francesco ; Servidei, Serena ; Papadimitriou, Alex ; Spelbrink, Hans ; Silvestri, Laura ; Casari, Giorgio ; Comi, Giacomo P. ; Zeviani, Massimo. / Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. In: Annals of Neurology. 2002 ; Vol. 52, No. 2. pp. 211-219.
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AU - Bono, Francesco

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AU - Papadimitriou, Alex

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