阿尔茨海默病突变加速 APP 转运。

Alzheimer mutant speeds APP transport.

机构信息

Department of Neurology and The Mount Sinai Center for Cognitive Health and NFL Neurological Care, Icahn School of Medicine at Mount Sinai, New York, NY.

Department of Psychiatry and The NIA-Designated Mount Sinai Alzheimer's Disease Research Center, Icahn School of Medicine at Mount Sinai, New York, NY.

出版信息

J Exp Med. 2021 Jun 7;218(6). doi: 10.1084/jem.20210511. Epub 2021 May 14.

DOI:10.1084/jem.20210511

PMID:33988687

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8129791/

Abstract

APPS198P segregates with rare familial forms of Alzheimer's disease and resides within exon 5, unlike 27 other mutations that reside in exons 16 or 17. In this issue, Zhang et al. (2021. J. Exp. Med.https://doi.org/10.1084/jem.20210313) show that the brains of APPS198P transgenic mice accumulate excess levels of Aβ. In cultured cells, APPS198P undergoes accelerated ER folding, leading to early arrival in late vesicular compartments, thereby enhancing generation of Aβ.

摘要

APPS198P 与阿尔茨海默病的罕见家族形式分离，位于外显子 5 中，而不像其他 27 种突变位于外显子 16 或 17 中。在本期杂志中，Zhang 等人（2021. J. Exp. Med. https://doi.org/10.1084/jem.20210313）表明，APPS198P 转基因小鼠的大脑积累了过量的 Aβ。在培养的细胞中，APPS198P 经历加速的 ER 折叠，导致其早期进入晚期囊泡隔间，从而增强 Aβ 的产生。