Using cells from blood relatives with familial Alzheimer’s disease (AD), a team of researchers at Brigham and Women’s Hospital (BWH) has been able to study the underlying causes of AD and develop new ways to test treatment approaches.
People with familial AD have a genetic predisposition that leads to early development of the disease. More than 200 different mutations are associated with familial AD. Depending on the mutation, patients with familial AD can begin exhibiting symptoms as early as their 30s and 40s.
“Our research using human cells affected by AD has been limited to tissue samples from patients who have already died from the disease,” says Dr. Tracy L. Young-Pearse, corresponding author of the study recently published in Human Molecular Genetics and an investigator in the BWH Center for Neurologic Diseases. “AD is characterized by the presence of amyloid-beta protein plaques and Tau protein tangles, but observing living cell behavior and understanding the role of these abnormal protein deposits and tangles and their relationship has been challenging.”