Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Proc Natl Acad Sci U S A. 2011 Aug 9;108(32):13293-8. doi: 10.1073/pnas.1109297108. Epub 2011 Jul 22.
Mutations in presenilins (PS) account for most early-onset familial Alzheimer's disease (FAD). Accumulating evidence suggests that disrupted Ca(2+) signaling may play a proximal role in FAD specifically, and Alzheimer's disease (AD) more generally, but its links to the pathogenesis of AD are obscure. Here we demonstrate that expression of FAD mutant PS constitutively activates the transcription factor cAMP response element binding protein (CREB) and CREB target gene expression in cultured neuronal cells and AD mouse models. Constitutive CREB activation was associated with and dependent on constitutive activation of Ca(2+)/CaM kinase kinase β and CaM kinase IV (CaMKIV). Depletion of endoplasmic reticulum Ca(2+) stores or plasma membrane phosphatidylinositol-bisphosphate and pharmacologic inhibition or knockdown of the expression of the inositol trisphosphate receptor (InsP(3)R) Ca(2+) release channel each abolished FAD PS-associated constitutive CaMKIV and CREB phosphorylation. CREB and CaMKIV phosphorylation and CREB target gene expression, including nitric oxide synthase and c-fos, were enhanced in brains of M146V-KI and 3xTg-AD mice expressing FAD mutant PS1 knocked into the mouse locus. FAD mutant PS-expressing cells demonstrated enhanced cell death and sensitivity to Aβ toxicity, which were normalized by interfering with the InsP(3)R-CAMKIV-CREB pathway. Thus, constitutive CREB phosphorylation by exaggerated InsP(3)R Ca(2+) signaling in FAD PS-expressing cells may represent a signaling pathway involved in the pathogenesis of AD.
早发型家族性阿尔茨海默病(FAD)的大多数病例与早老素(PS)基因突变有关。越来越多的证据表明,钙信号紊乱可能在 FAD 中起主要作用,更普遍地说,在阿尔茨海默病(AD)中起主要作用,但它与 AD 发病机制的联系尚不清楚。在这里,我们证明 FAD 突变 PS 的表达在培养的神经元细胞和 AD 小鼠模型中持续激活转录因子 cAMP 反应元件结合蛋白(CREB)和 CREB 靶基因表达。持续的 CREB 激活与 Ca2+/钙调蛋白激酶激酶 β(CaMKIV)和钙调蛋白激酶 IV(CaMKIV)的持续激活有关,并依赖于它们。内质网 Ca2+库或质膜磷脂酰肌醇-双磷酸的耗竭以及三磷酸肌醇受体(InsP3R)Ca2+释放通道的药理学抑制或敲低,均消除了 FAD PS 相关的组成型 CaMKIV 和 CREB 磷酸化。在表达 FAD 突变 PS1 的 M146V-KI 和 3xTg-AD 小鼠脑中,包括一氧化氮合酶和 c-fos 在内的 CREB 和 CaMKIV 磷酸化和 CREB 靶基因表达增强。在 FAD 突变 PS 表达细胞中,增强的 InsP3R Ca2+信号通过夸张的 InsP3R-CAMKIV-CREB 途径增强细胞死亡和对 Aβ毒性的敏感性,这可以通过干扰 InsP3R-CAMKIV-CREB 途径来正常化。因此,FAD PS 表达细胞中过度的 InsP3R Ca2+信号引起的组成型 CREB 磷酸化可能代表 AD 发病机制中的一种信号通路。