Researchers have identified a mutation in the amyloid precursor protein (APP) that provides protection against Alzheimer’s disease, according to a study published today (July 11) in Nature. The mutation, which reduces cleavage of APP into the amyloid β fragments that aggregate in the brains of Alzheimer’s patients, appears to protect against the disease and age-related cognitive decline.
“We already knew that factors that increase the amount of amyloid β are risk factors, but this study demonstrates a rare variant that decreases the amount of amyloid β,” said Alison Goate, a geneticist at Washington University in St. Louis. Although a few other protective mutations have been identified, most notably those underlying the ApoE2 isoform of apolipoprotein E, most researchers have focused on genetic risk factors.
The value of looking beyond risk factors to protective mutations is “an important message for future studies,” said Fabrizio Tagliavini, who researches prion and prion-like diseases, ...
