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A New Angle on the Cause of Alzheimer’s Disease: Accumulating Brain Mutations

By May 25, 2022No Comments

Alzheimer’s disease is marked by a loss of functional neurons in the brain. But what causes this loss? A new study reveals that people with Alzheimer’s have an abundance of newly acquired mutations in their neurons — more than people of the same age without Alzheimer’s, and enough to disable genes important to brain function.

“Cells have repair pathways to undo DNA damage, but in Alzheimer’s disease, neurons can’t keep up with the repairs,” says Christopher Walsh, MD, PhD, chief of the Division of Genetics and Genomics at Boston Children’s Hospital and a senior investigator on the study. “So the damage is permanent and cumulative. This work provides a new way of thinking about neurodegenerative diseases like Alzheimer’s, suggesting that they impair neurons’ ability to use their genome.”

The study, published in Nature on April 20, may also help connect the dots between loss of neurons and the well-documented accumulation of amyloid-β and tau proteins in Alzheimer’s disease.