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

G Van Goethem; B Dermaut; A Löfgren; J J Martin; C Van Broeckhoven

doi:10.1038/90034

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.

Authors

G Van Goethem¹, B Dermaut, A Löfgren, J J Martin, C Van Broeckhoven

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Amino Acid Sequence
Belgium
Chromosomes, Human, Pair 15 / genetics
DNA Polymerase gamma
DNA, Mitochondrial / genetics*
DNA-Directed DNA Polymerase / genetics*
Female
Heterozygote
Humans
Lod Score
Male
Molecular Sequence Data
Mutation
Mutation, Missense
Ophthalmoplegia, Chronic Progressive External / enzymology
Ophthalmoplegia, Chronic Progressive External / epidemiology
Ophthalmoplegia, Chronic Progressive External / genetics*
Pedigree
Sequence Deletion
Sequence Homology, Amino Acid

Substances

DNA, Mitochondrial
DNA Polymerase gamma
DNA-Directed DNA Polymerase
POLG protein, human