New Research into Genetic Cause of Alzheimer’s Disease

Researchers in New York believe they have discovered how the gene for early-onset Alzheimer’s disease interferes with brain activity – an amazing discovery that may lead to better understanding of the causes of more common types of Alzheimer’s.

Professor Ralph Nixon, M.D. of the Center for Dementia Research says that his team has uncovered a mutation in a gene that normally removes “debris” from the brain. The study, published in the journal Cell, reveals that the gene preseilin 1 normally enables cells to digest excess bits of protein called, cleaning up and recycling them.

Working at the Langone Medical Center and the Nathan S. Kline Institute for Psychiatric Research, Dr. Nixon and his team tested mice and studied the skin cells of patients with early-onset Alzheimer’s presenilin 1 gene mutations. They found that in Alzheimer’s patients, the bits of protein were accumulating until they were at levels that were potentially toxic to the brain.

Because the same disruption of cell clean up is seen in all types of Alzheimer’s, the study has far-reaching ramifications. Alzheimer’s research has long focused on the production of beta-amyloids, however, Dr. Nixon suggests that other proteins are equally to blame. Developing better treatments could restore the brain’s ability to “clean up” these proteins before they do permanent damage.

The discovery will prompt new treatments for early-onset Alzheimer’s, but it also suggests areas of research for the more common form of the disease, which occurs later in life. Nationwide, about 5.3 million people have Alzheimer’s resulting in memory loss and loss of intellectual abilities. The early-onset type afflicts only about 200,000 with symptoms showing in patients as early as 30 years of age.

Dr. William Thies, Chief Medical Officer of the Alzheimer’s Association urges patients not to be too optimistic about the study. He points out that it was a study on mice, which may not translate into accurate information on humans. Even if the study has revealed the ultimate cause of Alzheimer’s, it will probably be a generation before effective treatments are introduced. He noted that the study may be “more important for children of people with Alzheimer’s.”

By Joni Holderman, [email protected], contributing reporter for Mental Health News.