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.

Figures