Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
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- 1 July 2001
- journal article
- Published by Springer Science and Business Media LLC in Nature Genetics
- Vol. 28 (3), 211-212
- https://doi.org/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.Keywords
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