Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
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.
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Most of the mutations in Pol γ are associated with arPEO; they are compound heterozygotes and often occur with common Pol γ mutations, such as A467T, W748S, R309L, G848S, R627W, N846S or T251I in cis with P587L.
“Most of the mutations in Pol γ are associated with arPEO. They are compound heterozygotes and often occur with common Pol γ mutations, such as A467T (Van Goethem et al., 2003a), W748S (Van Goethem et al., 2004), R309L (Lamantea et al., 2002), G848S (Lamantea et al., 2002), R627W (Van Goethem et al., 2003a), N846S (Van Goethem et al., 2003c) or T251I in cis with P587L (Lamantea et al., 2002; Scud”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Lamantea et al., 2002
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References 36 · Cited by 270
- Authors
- Lamantea, E., Tiranti, V., Bordoni, A., Toscano, A., Bono, F., Servidei, S., Papadimitriou, A., Spelbrink, H., Silvestri, L., Casari, G., Comi, G. P., & Zeviani, M.
- Affiliations
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Magna Graecia University (IT)
- Hellenic Red Cross (GR)
- IRCCS Ospedale San Raffaele (IT)
- Corresponding author
- Zeviani, Massimo
- ORCID
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2002-07-23
- Volume
- 52
- Issue
- 2
- Pages
- 211-219
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2140462925
- Cited by
- 270
- References
- 36
- Citations by year
- 2026: 5 · 2025: 5 · 2024: 3 · 2023: 5 · 2022: 9 · 2021: 9 · 2020: 8 · 2019: 9 · 2018: 6 · 2017: 5 · 2016: 11 · 2015: 5 · 2014: 7 · 2013: 12 · 2012: 13
- FWCI
- 7.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Annals of Neurology (publishedVersion)
- PubMed (publishedVersion)
- Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
- Padua Research Archive (University of Padova) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- chronic progressive external ophthalmoplegia, POLG1, missense mutations, autosomal dominant inheritance, autosomal recessive inheritance, mitochondrial DNA deletions, mutation detection
- MeSH terms
- DNA Polymerase gamma, Amino Acid Sequence, DNA-Directed DNA Polymerase, Genes, Dominant, Genes, Recessive, Heterozygote, Humans, Molecular Sequence Data, Ophthalmoplegia, Pedigree, Mutation, Missense
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