Bettayeb Karima, Hooli Basaraj V, Parrado Antonio R, Randolph Lisa, Varotsis Dante, Aryal Suvekshya, Gresack Jodi, Tanzi Rudolph E, Greengard Paul, Flajolet Marc
Laboratory of Molecular and Cellular Neuroscience, The Rockefeller University, New York, NY 10065;
Genetics and Aging Research Unit, MassGeneral Institute for Neurodegenerative Disease, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02129.
Proc Natl Acad Sci U S A. 2016 May 10;113(19):5418-23. doi: 10.1073/pnas.1604176113. Epub 2016 Apr 25.
Cellular trafficking and recycling machineries belonging to late secretory compartments have been associated with increased Alzheimer's disease (AD) risk. We have shown that coat protein complex I (COPI)-dependent trafficking, an early step in Golgi-to-endoplasmic reticulum retrograde transport, affects amyloid precursor protein subcellular localization, cell-surface expression, as well as its metabolism. We present here a set of experiments demonstrating that, by targeting subunit δ-COP function, the moderation of the COPI-dependent trafficking in vivo leads to a significant decrease in amyloid plaques in the cortex and hippocampus of neurological 17 mice crossed with the 2xTg AD mouse model. Remarkably, an improvement of the memory impairments was also observed. Importantly, human genetic association studies of different AD cohorts led to the identification of 12 SNPs and 24 mutations located in COPI genes linked to an increased AD risk. These findings further demonstrate in vivo the importance of early trafficking steps in AD pathogenesis and open new clinical perspectives.
属于晚期分泌区室的细胞运输和再循环机制已被认为与阿尔茨海默病(AD)风险增加有关。我们已经表明,依赖于衣被蛋白复合物I(COPI)的运输,即高尔基体到内质网逆行运输的早期步骤,会影响淀粉样前体蛋白的亚细胞定位、细胞表面表达及其代谢。我们在此展示了一组实验,证明通过靶向亚基δ-COP的功能,体内依赖于COPI的运输的适度调节会导致与2xTg AD小鼠模型杂交的神经学17小鼠的皮质和海马中淀粉样斑块显著减少。值得注意的是,还观察到记忆障碍有所改善。重要的是,对不同AD队列的人类基因关联研究导致鉴定出位于与AD风险增加相关的COPI基因中的12个单核苷酸多态性(SNP)和24个突变。这些发现进一步在体内证明了早期运输步骤在AD发病机制中的重要性,并开辟了新的临床前景。