Haung Yu, Asok Kumar, Sooyeon Lee, S. Panaiyur Mohan, Corrinne M. Peterhof, Devin M. Wolfe, Marta Martinez-Vicente, Ashish C. Massey, Guy Sovak, Yasuo Uchiyama, David Westaway, Ana Maria Cuervo, Ralph A. Nixon.Until now, scientists have discovered more than 160 rare mutations of presenilin 1 and two other genes that cause familial form of Alzheimer’s disease early, but found only a few genes associated with late-onset form.
Most of the development of drugs for Alzheimer’s disease has focused on the removal of amyloid in the brain, said Nixon, who reported that their results strongly suggest there are alternative routes goal:
The protein encoded by Nab2/ZC3H14 seems to be part of a group of proteins, including disrupted in fragile X syndrome, which regulate the function of brain cells by binding to RNA.
Nixon said there are currently no treatment to slow or prevent the progression of Alzheimer’s disease and urged to consider the disease as multi-factorial approach and treatment of this perspective.
For example, therapies can be designed to repair the cellular mechanism that removes toxic proteins before they damage the brain, he added.
A report of the study, conducted by Dr. Ralph Nixon, a professor in the Department of Psychiatry and Cell Biology at New York University Langone Medical Center, appears in the June 10 issue of the journal Cell Online.
Autophagy and lysosomal proteolysis require presenilin 1 and are affected by Alzheimer’s disease linked mutations in PS1.
U.S. researchers have discovered how mutations in the presenilin 1 gene that causes familial Alzheimer’s disease early onset stop a process essential for recycling of proteins, allowing toxins to build up and destroy brain cells. They hope that the discovery of new treatments to stimulate both early onset and the appearance of an end of the most common form of Alzheimer’s disease, a brain wasting disease that affects millions of people around the world
Observations during the Nathan Kline Institute suggests a breakdown of cellular proteins similar recycling occurs in late onset Alzheimer’s, Nixon said, suggesting that other factors might be involved.