Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C
Nature Genetics (2001)
Category: mitochondrial diseases ¤ Added: Jan 16, 2004 ¤ Rating: ◊◊
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.