甲基丙二酸血症脑损伤机制研究进展  

Progress in mechanisms of brain injury in methylmalonic acidemia

作　　者：王斐[1] 韩连书[1] 

机构地区：[1]上海交通大学医学院附属新华医院上海市儿科医学研究所内分泌遗传代谢病研究室,上海200092

出　　处：《国际病理科学与临床杂志》2008年第1期77-80,共4页Journal of International Pathology and Clinical Medicine

基　　金：上海市科委科研计划项目(05JC14041);上海市重点学科建设项目(T0204)~~

摘　　要：甲基丙二酸血症是由于甲基丙二酰辅酶A变位酶或其辅酶腺苷钴胺素缺陷所致的一种遗传性代谢疾病。患者体内甲基丙二酸及其他代谢产物蓄积,造成脑组织损伤,可表现为各种不同程度的智力发育迟缓及严重的神经功能障碍。甲基丙二酸血症的脑损伤机制至今尚不完全明确,目前研究主要集中在:线粒体功能障碍、神经元细胞凋亡、细胞骨架磷酸化改变及髓鞘形成障碍等脑神经结构损伤;神经节苷脂和突触可塑性异常等脑神经发育损伤;以及认知和行为改变等脑功能损伤。Methylmalonic acidemia is an inherited metabolic disorder, which is caused by deficiency of methylmalonyl-coenzyme A mutase or its cofactor adenosylcobalamin. The accumulation of methylmalonic acid and other metabolites results in the brain injury. The affected infants may present variable degrees of mental retardation and severe neurological dysfunction. At present, the underlying mechanisms of brain injury in methylmalonic acidemia have not yet fully established. The current researches are mainly related to the following three aspects： firstly, the neuronal structure injury such as mitochondrial dysfunction, neuronal apoptosis, the alteration of cytoskeleton phosphorylation and hypomyelination; secondly, the brain function injury such as abnormalities of ganglioside and synaptic plasticity; thirdly, the brain development injury such as changes of cognition and behavior in methylmalonic acidemia.

关 键 词：甲基丙二酸血症 脑损伤 脑神经结构 脑功能 脑发育 

分 类 号：R725.8[医药卫生—儿科]