Department of Neuroscience and Cell Biology, University of Texas Medical Branch, Galveston, TX 77555, USA.
Proc Natl Acad Sci U S A. 2012 Aug 14;109(33):13416-21. doi: 10.1073/pnas.1206786109. Epub 2012 Jul 30.
The pathogenesis of Alzheimer's disease (AD) is associated with proteolytic processing of the amyloid precursor protein (APP) to an amyloidogenic peptide termed Aβ. Although mutations in APP and the secretase enzymes that mediate its processing are known to result in familial forms of AD, the mechanisms underlying the more common sporadic forms of the disease are still unclear. Evidence suggests that the susceptibility of APP to amyloidogenic processing is related to its intracellular localization, and that secretase-independent degradation may prevent the formation of cytotoxic peptide fragments. Recently, single nucleotide polymorphisms in the UBQLN1 gene have been linked to late-onset AD, and its protein product, ubiquilin-1, may regulate the maturation of full-length APP. Here we show that ubiquilin-1 inhibits the maturation of APP by sequestering it in the early secretory pathway, primarily within the Golgi apparatus. This sequestration significantly delayed the proteolytic processing of APP by secretases and the proteasome. These effects were mediated by ubiquilin-1-stimulated K63-linked polyubiquitination of lysine 688 in the APP intracellular domain. Our results reveal the mechanistic basis by which ubiquilin-1 regulates APP maturation, with important consequences for the pathogenesis of late-onset AD.
阿尔茨海默病(AD)的发病机制与淀粉样前体蛋白(APP)的蛋白水解加工有关,生成一种称为 Aβ 的淀粉样肽。尽管 APP 中的突变以及介导其加工的蛋白酶体酶的突变已知会导致家族性 AD,但导致更为常见的散发性 AD 的机制仍不清楚。有证据表明,APP 易于发生淀粉样肽加工与其细胞内定位有关,并且非酶依赖性降解可能会阻止细胞毒性肽片段的形成。最近,UBQLN1 基因中的单核苷酸多态性与迟发性 AD 相关,其蛋白产物泛素结合酶 1(ubiquilin-1)可能调节全长 APP 的成熟。在这里,我们表明泛素结合酶 1 通过将 APP 隔离在早期分泌途径中,主要是在内质网高尔基体中,从而抑制 APP 的成熟。这种隔离显著延迟了 APP 被蛋白酶体和蛋白酶体的酶切加工。这些作用是通过 ubiquilin-1 刺激 APP 细胞内域赖氨酸 688 的 K63 连接多泛素化介导的。我们的研究结果揭示了 ubiquilin-1 调节 APP 成熟的机制基础,对迟发性 AD 的发病机制具有重要意义。