Yan R, Bienkowski M J, Shuck M E, Miao H, Tory M C, Pauley A M, Brashier J R, Stratman N C, Mathews W R, Buhl A E, Carter D B, Tomasselli A G, Parodi L A, Heinrikson R L, Gurney M E
Cell & Molecular Biology, Pharmacia & Upjohn, Inc., Kalamazoo, MI 49007, USA.
Nature. 1999 Dec 2;402(6761):533-7. doi: 10.1038/990107.
Mutations in the gene encoding the amyloid protein precursor (APP) cause autosomal dominant Alzheimer's disease. Cleavage of APP by unidentified proteases, referred to as beta- and gamma-secretases, generates the amyloid beta-peptide, the main component of the amyloid plaques found in Alzheimer's disease patients. The disease-causing mutations flank the protease cleavage sites in APP and facilitate its cleavage. Here we identify a new membrane-bound aspartyl protease (Asp2) with beta-secretase activity. The Asp2 gene is expressed widely in brain and other tissues. Decreasing the expression of Asp2 in cells reduces amyloid beta-peptide production and blocks the accumulation of the carboxy-terminal APP fragment that is created by beta-secretase cleavage. Solubilized Asp2 protein cleaves a synthetic APP peptide substrate at the beta-secretase site, and the rate of cleavage is increased tenfold by a mutation associated with early-onset Alzheimer's disease in Sweden. Thus, Asp2 is a new protein target for drugs that are designed to block the production of amyloid beta-peptide peptide and the consequent formation of amyloid plaque in Alzheimer's disease.
编码淀粉样蛋白前体(APP)的基因突变会导致常染色体显性阿尔茨海默病。APP被未明确的蛋白酶(称为β-和γ-分泌酶)切割后,会产生淀粉样β肽,这是在阿尔茨海默病患者大脑中发现的淀粉样斑块的主要成分。导致疾病的突变位于APP中的蛋白酶切割位点两侧,并促进其切割。在此,我们鉴定出一种具有β-分泌酶活性的新的膜结合天冬氨酸蛋白酶(Asp2)。Asp2基因在大脑和其他组织中广泛表达。降低细胞中Asp2的表达会减少淀粉样β肽的产生,并阻止由β-分泌酶切割产生的APP羧基末端片段的积累。可溶性Asp2蛋白在β-分泌酶位点切割合成的APP肽底物,并且与瑞典早发性阿尔茨海默病相关的突变使切割速率提高了10倍。因此,Asp2是设计用于阻断阿尔茨海默病中淀粉样β肽产生及随后淀粉样斑块形成的药物的新蛋白质靶点。