Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Van Goethem, Gert; Dermaut, Bart; Löfgren, Ann; Martin, Jean-Jacques; Van Broeckhoven, Christine

doi:10.1038/90034

Cited by 841Mitochondrial Function and PathologyGenomics and Rare DiseasesHereditary Neurological Disorders

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Van Goethem, Gert, Dermaut, Bart, Löfgren, Ann, Martin, Jean-Jacques, Van Broeckhoven, Christine·2001·Nature Genetics

DOI 10.1038/90034

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Abstract

Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. We mapped a new locus for dominant PEO at 15q22-q26 in a Belgian pedigree and identified a heterozygous mutation (Y955C) in the polymerase motif B of the mtDNA polymerase gamma (POLG). We identified three additional POLG missense mutations compatible with recessive PEO In two nuclear families. POLG is the only DNA polymerase responsible for mtDNA replication.

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PEO is associated with mtDNA point mutations and deletions.
“PEO is associated with mtDNA point mutations and deletions (Hirano et al., 2001; Van Goethem et al., 2001; Van Goethem et al., 2003b) first identified in an Italian family with heritable autosomal dominant PEO (adPEO) (Zeviani et al., 1989).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Van Goethem et al., 2001
A heterozygous mutation in Pol γ that substituted a tyrosine with cysteine at codon 955 (Y955C) was first identified as a disease locus for adPEO while three more missense mutations were associated with arPEO.
“In 2001, a heterozygous mutation in Pol γ that substituted a tyrosine with cysteine at codon 955 (Y955C) was first identified as a disease locus for adPEO while three more missense mutations were associated with arPEO (Van Goethem et al., 2001).”
From Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases (2017) · cites this paper as Van Goethem et al., 2001

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Authors: Van Goethem, G., Dermaut, B., Löfgren, A., Martin, J.-J., & Van Broeckhoven, C.
Affiliations: University of Antwerp (BE)
ORCID: Dermaut, Bart
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2001-07
Volume: 28
Issue: 3
Pages: 211-212
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/90034
OpenAlex: W1535907462
Cited by: 841
References: 20
Citations by year: 2026: 16 · 2025: 15 · 2024: 24 · 2023: 18 · 2022: 33 · 2021: 12 · 2020: 25 · 2019: 20 · 2018: 19 · 2017: 18 · 2016: 31 · 2015: 29 · 2014: 31 · 2013: 37 · 2012: 56
FWCI: 15.13
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Ghent University Academic Bibliography (Ghent University) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: chronic progressive external ophthalmoplegia, DNA polymerase gamma, mitochondrial DNA polymerase gamma, mitochondrial DNA deletions, missense mutations, mitochondrial DNA replication, gene mapping
MeSH terms: DNA Polymerase gamma, Adolescent, Adult, Amino Acid Sequence, Belgium, Chromosomes, Human, Pair 15, DNA-Directed DNA Polymerase, DNA, Mitochondrial, Female, Heterozygote, Humans, Lod Score, Male, Molecular Sequence Data, Mutation, Pedigree, Ophthalmoplegia, Chronic Progressive External, Sequence Deletion, Sequence Homology, Amino Acid, Mutation, Missense

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

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