Defining the changes in cell biology caused by PRESENILIN truncations associated with different diseases

在人类中，PRESENILIN基因的截短可以引起两种非常不同的疾病：遗传性早发性阿尔茨海默病（家族性阿尔茨海默病）和一种名为遗传性痤疮的皮肤病。一个截短也涉及非遗传性的迟发性阿尔茨海默病。为什么这些不同的截短会产生不同的疾病？研究这个问题将使我们更多地了解这些不同疾病的分子基础。这种理解对于治疗的发展是必要的。

Truncations of the PRESENILIN genes in humans can cause two very different diseases: inherited, early onset Alzheimer’s disease (familial Alzheimer's disease) and a skin disease named inherited Acne Inversa. One truncation is also involved in the non-inherited, late onset form of Alzheimer’s disease. Why do these different truncations produce different diseases? Investigating this question will teach us more about the molecular bases of these different diseases. This understanding will be required for the development of treatments.