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C型NiemannPick病是一种常染色体隐性遗传的致命性脂质沉积和神经变性疾病。目前认为,npc1或npc2基因突变所致的胆固醇和鞘类脂质代谢异常以及细胞周期依赖性蛋白激酶异常活化引起的神经元骨架损伤参与了该病神经变性过程。对该病神经变性机制的认识与明确,将有助于探明神经元变性的基本分子机制和开发出有效治疗药物。
Type C Niemann-Pick disease is an autosomal recessive fatal lipid deposition and neurodegenerative disease. At present, it is thought that the abnormality of cholesterol and sheath lipid metabolism caused by the mutation of npc1 or npc2 gene and the neuronal scaffold damage caused by the abnormal activation of cell cycle dependent protein kinase are involved in the neurodegenerative process of the disease. Understanding and clarification of the neurodegenerative mechanism of the disease will help identify the basic molecular mechanisms of neuronal degeneration and develop effective therapies.