阿尔茨海默病的 APP 转基因建模:神经退行性变和异常神经发生的机制。

APP transgenic modeling of Alzheimer's disease: mechanisms of neurodegeneration and aberrant neurogenesis.

机构信息

Department of Pathology, University of California, San Diego, La Jolla, CA, USA.

出版信息

Brain Struct Funct. 2010 Mar;214(2-3):111-26. doi: 10.1007/s00429-009-0232-6. Epub 2009 Nov 29.

Abstract

Neurodegenerative disorders of the aging population affect over 5 million people in the US and Europe alone. The common feature is the progressive accumulation of misfolded proteins with the formation of toxic oligomers. Alzheimer's disease (AD) is characterized by cognitive impairment, progressive degeneration of neuronal populations in the neocortex and limbic system, and formation of amyloid plaques and neurofibrillary tangles. Amyloid-beta (Abeta) is the product of proteolysis of amyloid precursor protein (APP) by beta and gamma-secretase enzymes. The neurodegenerative process in AD initiates with axonal and synaptic damage and is associated with progressive accumulation of toxic Abeta oligomers in the intracellular and extracellular space. In addition, neurodegeneration in AD is associated with alterations in neurogenesis. Abeta accumulation is the consequence of an altered balance between protein synthesis, aggregation rate, and clearance. Identification of genetic mutations in APP associated with familial forms of AD and gene polymorphisms associated with the more common sporadic variants of AD has led to the development of transgenic (tg) and knock out rodents as well as viral vector driven models of AD. While APP tg murine models with mutations in the N- and C-terminal flanking regions of Abeta are characterized by increased Abeta production with plaque formation, mutations in the mid-segment of Abeta result in increased formation of oligomers, and mutations toward the C-terminus (E22Q) segment results in amyloid angiopathy. Similar to AD, in APP tg models bearing familial mutations, formation of Abeta oligomers results in defective plasticity in the perforant pathway, selective neuronal degeneration, and alterations in neurogenesis. Promising results have been obtained utilizing APP tg models of AD to develop therapies including the use of beta- and gamma-secretase inhibitors, immunization, and stimulating neurogenesis.

摘要

衰老人口中的神经退行性疾病仅在美国和欧洲就影响了超过 500 万人。其共同特征是错误折叠的蛋白质逐渐积累,形成有毒的寡聚物。阿尔茨海默病(AD)的特征是认知障碍、新皮质和边缘系统神经元群体的进行性退化,以及淀粉样斑块和神经原纤维缠结的形成。淀粉样β(Abeta)是淀粉样前体蛋白(APP)被β和γ-分泌酶切割的产物。AD 的神经退行性过程始于轴突和突触损伤,并与细胞内和细胞外空间中有毒 Abeta 寡聚物的进行性积累有关。此外,AD 的神经退行性变与神经发生的改变有关。Abeta 的积累是蛋白质合成、聚集率和清除率之间失衡的结果。APP 中的基因突变与家族性 AD 相关,基因多态性与更常见的散发性 AD 相关,这导致了转基因(tg)和敲除啮齿动物以及 AD 的病毒载体驱动模型的发展。虽然 APP tg 鼠模型中 Abeta 的 N-和 C-末端侧翼区域的突变特征是 Abeta 产量增加和斑块形成,但 Abeta 中段的突变导致寡聚物形成增加,而 C-末端(E22Q)片段的突变导致淀粉样血管病。与 AD 相似,在携带家族突变的 APP tg 模型中,Abeta 寡聚物的形成导致穿通通路的可塑性缺陷、选择性神经元变性和神经发生的改变。利用 AD 的 APP tg 模型开发疗法取得了有希望的结果,包括使用β和γ-分泌酶抑制剂、免疫接种和刺激神经发生。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/04cd/2847155/abb6f997921c/429_2009_232_Fig1_HTML.jpg

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