Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
Van Goethem, G Dermaut, Bart Lofgren, A Martin, JJ Van Broeckhoven, C # ×
Nature america inc
Nature genetics vol:28 issue:3 pages:211-212
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.