早老素1(presenilin 1,PS1)基因是近年来确定的导致阿尔茨海默病发病的基因之一,定位于染色体14q24.3座位(D14S43、D14S71、D14S77),其产物PS1蛋白是一个含有467个氨基酸残基的多次跨膜蛋白,定位于内质网、内质网到高尔基体转运中间物、高尔基体的顺面以及细胞表面.近年来的研究表明,PS1作为τ分泌酶复合体的重要组成部分,不仅参与胚胎发育的调控,并且参与βAPP代谢途径、Notch信号通路、E-cadhefin细胞间相互作用、Wnt信号通路及GH受体信号通路等的调控。
Mutations in presenilin 1(PS1)gene is genetically linked to the early onset of familial Alzheimer's disease(EOFAD),located on 14q24.3(D14S43 and D14S71 and D14S77).The PS1 is a multi-pass transmembrane protein containing 467 amino acid residues.PS1 exits in the endoplasmic reticulum,transmit intermediates endoplasmic reticulum to the Golsi apparatus,the smooth surface of Golgi apparatus,and the cell surface.Recent studies show that PS1 as the important component ofτ-secretase complex,is not only involved in the regulation of embryonic development,but also participate in βAPP metabolic pathways,Notch signaling pathways,E-CADHERIN cell interactions,Wnt signaling pathways and the GH receptor signaling pathways.
李铁,李佳慧. 早老素1基因研究进展 : [J]. 国际遗传学杂志,2009,32(01)：51-56.
DOI:10.3760/cma.j.issn.1673-4386.2009.01.013
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