Chinese study analyzes familial Alzheimer's genetic features

BEIJING -- Chinese researchers reported that they have analyzed genetic features of familial Alzheimer's Disease (FAD) in China, to detect the distribution of a gene mutation among Chinese FAD patients.

When more than two people in a family have Alzheimer's disease (AD), it is categorized as a FAD. About 25 percent of all Alzheimer's diseases is familial.

Researchers from Capital Medical University in Beijing reported in the journal Alzheimer's & Dementia that they built the Chinese Familial Alzheimer's Disease Network in 2002 to collect FAD cases.

They followed 1,330 patients with AD or mild cognitive impairment in 404 families for 17 years.

Previous studies have found that mutations in the amyloid protein precursor (APP), presenilin-1 (PSEN1) and presenilin-2 (PSEN2) genes are a known cause of FAD.

Researchers said that they found 50 variants of PSENs/APP mutations, 11 of which were reported for the first time. Meanwhile, 83.17 percent of the patients did not carry PSENs/APP mutations.

The researchers said that the low mutations rate of PSENs/APP indicates that Chinese FAD patients have different genetic features from other ethnic groups, and further research is needed.

In the future, gene editing may be applied to fix genetic defects and hold potential to treat FAD, they said.