Familial Alzheimer’s disease mutations in the presenilin 1 gene reduce cell-cell adhesion in transfected fibroblasts

Experimental evidence has been obtained that mutations in the presenilin 1 (PS1) gene in familial Alzheimer’s disease can lead to the disturbance of cell adhesion in model cell cultures. It was shown that, in L fibroblasts of mice with stable expression of GFP-PS1 cDNA containing G209V or E319G mutations, cell-cell interactions and the accumulation of GFP-PS1 cDNA in intercellular contacts are disturbed. Similar results were obtained in transfected human epithelial HEp2 cells. It is assumed that mutations in familial Alzheimer’s disease lead to the disturbance of the functions of presenelin 1 in cell adhesion.

已获得实验证据表明，家族性阿尔茨海默病中早老素1（PS1）基因的突变可导致模型细胞培养物中细胞黏附的紊乱。研究显示，在稳定表达含G209V或E319G突变的绿色荧光蛋白 - PS1 cDNA的小鼠L成纤维细胞中，细胞间相互作用以及绿色荧光蛋白 - PS1 cDNA在细胞间接触部位的聚集受到干扰。在转染的人上皮HEp2细胞中也获得了类似结果。据推测，家族性阿尔茨海默病中的突变导致早老素1在细胞黏附方面的功能紊乱。