Methylmalonic acidemia(MMA)is an autosomal recessive inherited organic acid metabolic disorder,characterized by pathological changes and dysfunction of multiple systemic organs.Mitochondria is the center of energy metabolism in the cell and play a crucial role in normal physiological function of the body.In MMA patients,mitochondrial morphology and function are impaired,the mitochondrial autophagy pathway is damaged,and chemical stress is increased,posing a threat to tissues or organs.In this review,the abnormalities of mitochondrial function and homeostasis in MMA will be reviewed in order to provide more ideas for finding new therapeutic directions.
关键词
线粒体/甲基丙二酸血症/电子传递链/线粒体自噬/氧化应激
Key words
Mitochondria/Methylmalonic acidemia/Electron transport chain/Mitochondrial autophagy/Oxidative stress
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