Alzheimer's Disease Gene Has Role in Cell Survival
A U.S.-led international study has found a gene linked with Alzheimer's disease may also play a role in cell survival by helping neurons clear toxic proteins.
Researchers led by Dr. Ralph Nixon of New York University's Langone Medical Center discovered the presenilin 1 gene is essential to the function of lysosomes -- the cell component that digests and recycles unwanted proteins. But mutations in the PS1 gene -- a known risk factor for an early onset form of Alzheimer's disease -- disrupts that process.
Researchers have long theorized PS1 mutations linked to early-onset Alzheimer's might trigger abnormally high levels of beta-amyloid protein to clump together in the brain. The scientists said their new findings, however, suggest PS1 mutations may play a more general role in the development of early-onset Alzheimer's.
"This study expands our understanding of the role presenilin 1 mutations may play in Alzheimer's pathology," said Dr. Richard Hodes, director of the National Institute of Aging, which funded the study. "While more research is needed, lysosome disruption may be worth exploring as a potential target for new therapeutics to treat, prevent or delay this progressive and debilitating disease."
The study that included researchers from Europe, Japan and Canada appears in the early online edition of the journal Cell.