| pubmed-article:11695101 | pubmed:abstractText | A very small percentage (less than 5%) of all cases of Alzheimer's disease are autosomal dominant inherited and caused by a mutation in the presenilin protein (PS). The mutations are found on chromosome 14 (PS1) and chromosome 1 (PS2). Although the exact function of presenilin is still unknown, it seems to function as gamma-secretase or as a cofactor for it. This upsets the metabolic balance around the beta-amyloid precursor protein, which leads to the formation of senile amyloid plaques. | lld:pubmed |
