A genetic link to molecular events that precede symptoms in Alzheimer’s disease

Found: a genetic link to molecular events that precede symptoms in Alzheimer's disease
BACE1 (red) and GGA3 (green) in a wild-type neuron. Credit: S. Lomoio et al., Science Translational Medicine (2020)

Researchers at Tufts University School of Medicine have discovered a molecular mechanism that causes a “traffic jam” of enzymes traveling up and down neuronal axons, leading to the accumulation of amyloid beta—a key feature and cause of Alzheimer’s disease. The enzyme, BACE1, gets backed up, causing the axons to clog and swell because of the increased production of the toxic amyloid protein.

The study, published today in Science Translational Medicine, reports that a human mutation more prevalent in African American patients with late onset…

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