APP基因中的一种新的致病突变（I716V）增加了Aβ42（43）的相对比例。
A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43).
作者信息
Eckman C B, Mehta N D, Crook R, Perez-tur J, Prihar G, Pfeiffer E, Graff-Radford N, Hinder P, Yager D, Zenk B, Refolo L M, Prada C M, Younkin S G, Hutton M, Hardy J
机构信息
Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224, USA.
出版信息
Hum Mol Genet. 1997 Nov;6(12):2087-9. doi: 10.1093/hmg/6.12.2087.
We report a novel mutation in the amyloid precursor protein gene (APP I716V) which probably leads to familial early onset Alzheimer's disease with an onset age in the mid 50s. Cells transfected with cDNAs bearing this mutation produce more A beta 1-42(43) than those transfected with wild-type APP and this effect is additive with that of the previously reported APP V717I mutation thus providing a novel approach for further increasing A beta 1-42(43) in model systems.
我们报告了淀粉样前体蛋白基因（APP I716V）中的一种新突变，该突变可能导致家族性早发性阿尔茨海默病，发病年龄在50岁中期。用携带此突变的cDNA转染的细胞比用野生型APP转染的细胞产生更多的Aβ1-42（43），并且这种效应与先前报道的APP V717I突变的效应相加，从而为在模型系统中进一步增加Aβ1-42（43）提供了一种新方法。
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