2. Academic Validation
  3. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

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

  • Nat Genet. 2001 Jul;28(3):211-2. doi: 10.1038/90034.
G Van Goethem 1,  B Dermaut,  A Löfgren,  J J Martin,  C Van Broeckhoven
Affiliations

Affiliation

  • 1 Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born-Bunge Foundation, University of Antwerp, Universiteitsplein 1; B-2610 Antwerpen, Belgium.
PMID: 11431686 DOI: 10.1038/90034
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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