MELAS SYNDROME

作者：Agier V; Aure K; Lombes A^*

来源：Drugs of the Future, 2009, 34(3): 237-241.

DOI：10.1358/dof.2009.34.3.1340065

MELAS syndrome, on acronym for Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Strokelike episodes, is a very severe form of mitochondrial encephalopathy It has several genetic causes, the most frequent of which is the m 3243A>C mutation in the MT-TL1 gene on the mitochondrial DNA (mtDNA), often called the "MELAS mutation" This mutation is the most recurrent deleterious mtDNA point mutation It is always heteroplasmic and responsible for very diverse clinical presentations in addition to MELAS syndrome D Diseases associated with the m 3243A>C mutation ore thought to be due to oxidative phospharylation defects They display complex genotype/phenotype relationships and pathophysiological mechanisms, as well as difficulties for the set tip of controlled therapeutic trials

• 出版日期2009-3