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

Newswise — BOSTON (Nov. 18, 2020, 2:00 p.m. ET)—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 Alzheimer’s triggers a traffic jam of BACE1 in axons. Identifying this mutation is a key step in understanding the underlying molecular mechanisms of the disease and provides a possible strategy for early diagnosis and targeted treatments.

“In individuals with Alzheimer’s…

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