early-onset alzheimer’s disease occurs in people age 30 to 60 and represents less than 5% of all people with alzheimer’s. most cases are caused by an inherited change in one of three genes(app, psen1 and psen2), resulting in a type known as early-onset familial alzheimer’s disease, or fad. for others, the disease appears to develop without any specific, known cause.
ualzheimer examine three genes associated with fad，which comprehensively interpret genetic mutations and their relevance of fad, and discover individuals with high risk, so as to prevent and delay the disease.
app、psen1、psen2
researchers found that about 50% of familial ad was caused by three genes, namely app(chr21), psen1(chr14) and psen2(chr1). so far, 28 alzheimer-related app-mutations in 76 alzheimer family have been discovered. the onset age is between 30 and 65 years old. in addition, 18%-50% of pre-senile alzheimer is caused by psen1-mutation.
| gene | gene&disease | pathogenic mutation |
| app | 10%~15% | 28 |
| psen1 | 70%~85% | 165 |
| psen2 | <5% | 10 |
