MELAS associated with mutations in the POLG1 gene.

摘要

MELAS (mitochondrial myopathy, encephalopa-thy, lactic acidosis, and strokelike episodes) syndrome is a characteristic mitochondrial disorder caused by point mutations in the mitochondrial genome (mtDNA).1 In addition to primary mtDNA defects, mutations in nuclear genes essential for mtDNA maintenance are emerging as important causes of mitochondria] disease leading to secondary mtDNA changes including mtDNA depletion and multiple mtDNA deletions. Of particular interest are mutations in the mtDNA polymerase 7 (POLG1) gene, which are associated with a pheno-typic spectrum ranging from Alpers syndrome to recessive ataxia and late-onset progressive external ophthalmoplegia (PEO).2-5 We describe a patient with strokelike episodes typical of MELAS due to mutation of POLG1.