Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions (original) (raw)
- Brief Communication
- Published: July 2001
- Bart Dermaut1,2,
- Ann Löfgren1,2,
- Jean-Jacques Martin3,4,5,6 &
- …
- Christine Van Broeckhoven1,2
Nature Genetics volume 28, pages 211–212 (2001)Cite this article
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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 γ (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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Figure 1: a, Pedigrees of PEO families A, B and C (ref. 6).
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Acknowledgements
We are grateful to the family members who volunteered in this study. This work was in part funded by the Fund for Scientific Research-Flanders (FWO-F), Belgium. B.D. is a doctoral fellow of the FWO-F.
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Authors and Affiliations
- Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born-Bunge Foundation, University of Antwerp, Universiteitsplein 1
Gert Van Goethem, Bart Dermaut, Ann Löfgren & Christine Van Broeckhoven - Antwerpen, B-2610, Belgium
Gert Van Goethem, Bart Dermaut, Ann Löfgren & Christine Van Broeckhoven - Division of Neurology, University Hospital of Antwerp,
Gert Van Goethem & Jean-Jacques Martin - Antwerpen, Belgium
Gert Van Goethem & Jean-Jacques Martin - Department of Medicine, Laboratory of Neuropathology, Born-Bunge Foundation, University of Antwerp,
Jean-Jacques Martin - Antwerpen, Belgium
Jean-Jacques Martin
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Correspondence toChristine Van Broeckhoven.
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Van Goethem, G., Dermaut, B., Löfgren, A. et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.Nat Genet 28, 211–212 (2001). https://doi.org/10.1038/90034
- Received: 23 April 2001
- Accepted: 10 June 2001
- Issue Date: July 2001
- DOI: https://doi.org/10.1038/90034