Mechanism Behind Familial Alzheimer’s is Different Than Thought

A study from researchers at Massachusetts General Hospital (MGH) and Brigham and Women’s Hospital (BWH) reveals for the first time exactly how mutations associated with the most common form of inherited Alzheimer’s disease produce the disorder’s devastating effects. Appearing in Neuron, the paper upends conventional thinking about the effects of Alzheimer’s-associated mutations in the presenilin genes and provides an explanation for the failure of drugs designed to block presenilin activity.

“Our study provides new insights into Alzheimer’s disease by showing how human mutations that cause the disease lead to neurodegeneration and dementia,” says Raymond J. Kelleher III, MD, PhD, of the MGH Department of Neurology and Center for Human Genetic Research, co-senior author of the Neuron paper.

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