摘要
阿尔茨海默病(Alzheimer’s Disease,AD)与遗传因素密切相关。研究发现,大多数早发性家族性AD(FAD)和部分散发性AD(SAD)患者存在γ-分泌酶特别是早老素蛋白(presenilin,PS)基因突变。PS基因变异可引起β-淀粉样蛋白前体蛋白的加工和运输异常,产生过多的β-淀粉样蛋白(Aβ)而形成老年斑。对于SAD,PS表达的改变引起细胞骨架蛋白(如tau蛋白)之间的相互作用异常,而与神经纤维缠结(NFT)的形成有关。另外,PS使神经细胞对凋亡刺激的敏感性增强,以及PS基因突变产生过多的Aβ能引起脑内Bax表达增强,促进神经细胞的凋亡过程,引起AD脑内广泛的神经元减少或丢失。因此,PS在AD的发病中起到重要作用。
Alzheimer's disease (Alzheimer's Disease, AD) and genetic factors are closely linked. The study found that the majority of early-onset familial AD (FAD) and some sporadic AD (SAD) patients had Alzheimer-like protein (presenilin, PS) gene mutations. PS gene mutation can cause β-amyloid precursor protein processing and transport anomalies, resulting in an excess of β-amyloid (Aβ) and the formation of senile plaques.For SAD,PS to changes in the expression of cytoske letalproteins(eg tauprotein)the interaction between the abnormal, but not with neurofibrillary tangles (NFT) of the formation. In addition, PS to stimulate the nerve cells to apoptosis sensitivity increased, as well as the PS mutations result in excessive Aβ can cause brain increased expression of Bax, promote apoptosis of nerve cells, causing a wide range of neurons in AD brain to reduce or lost.So. PS in the pathogenesis of AD play an important role.
出处
《生物技术世界》
2012年第5期16-18,共3页
Biotech World
基金
国家自然科学基金项目(30960334)
内蒙古自然科学基金项目(2009BS1105)
"2009年教育部新世纪优秀人才支持计划"(NCET-09-0857)
