老年性痴呆相关的脑内调控基因

Alzheimers diseaserelated regulating genes in the brain

老年斑、淀粉样蛋白沉积及神经原纤维缠结（ＮＦＴ）是老年性痴呆（Ａｌｚｈｅｉｍｅｒｓｄｉｓｅａｓｅ，ＡＤ）主要的病理学特征。大量研究表明，ＡＤ的形成与脑内多种调控基因失调密切相关。β淀粉样蛋白（βＡＰ）是老年斑的主要成分，βＡＰ的前体蛋白（ＡＰＰ）剪切代谢成βＡＰ是淀粉样蛋白沉积的主要原因。ａｐｏＥ与家族型迟发性ＡＤ及突触可塑性密切相关，ｔａｕ蛋白过度磷酸化是ＮＦＴ形成的主要原因，ｐｒｅｓｅｎｉｌｉｎ（ＰＳ）基因与早发性ＡＤ及βＡＰ的生成具有密切关系。此外，ｂｃｌ２、ＩＣＥ、ｐ５３、ｆｏｓ、ｊｕｎ、ＳＯＤ及ｈｓｐ等基因参与了神经元的信号转导及凋亡等过程，与ＡＤ的形成也有一定的联系。因此，探明影响ＡＤ发生发展的基因种类、结构、功能与调控机制，对从基因水平揭示ＡＤ的发病机制具有重要意义。

Alzheimers disease (AD) is neuropathologically characterized by senile plaques, neurofibrillary tangles (NFT) and cerebrovascular amyloidosis. Many experimental results show that AD is closely related to the abnormal expression of some genes in the brain. The senile plaques are constituted mainly by an insoluble peptide, amyloid peptide ( AP), which is generated by alternative splicing of amyloid precursor protein(APP). Apo E is linked to both familial lateonset AD and synaptic plasticity. NFT consists primarily of aggregated paired helical filaments of hyperphosphorylated tau protein. Presenilin (PS) genes are closely related to earlyonset AD and the formation of AP. bcl2, ICE, p53, fos, jun, SOD and hsp genes are particularly important in relation to the formation of AD via apoptosis and signal transduction pathways. Therefore, it is highly important for the study of AD pathogenesis to clarify the sort, structure, function and regulation of ADrelated genes in the brain.