Alzheimer's Disease: A Potential Cause May Have Been Detected

On Thursday June 10th 2010, The National Institutes of Health or NIH issued a news release entitled, Gene Linked to Alzheimer’s Disease Plays Key Role in Cell Survival.

Ralph Nixon, M.D., Ph. D., of the Nathan Kline Institute, and the New York University Langone Medical Center, directed the study which involved research in the United States as well as Europe, Canada and Japan. The study appears in the June 10th 2010 online issue of Cell. The study was also supported in part by the Alzheimer’s Association.

The study was also reported on in Medical News Today on June 11th 2010 in an article entitled Role of Gene That Causes Early Onset Alzheimer’s Revealed.

The news release reported that a study funded by the National Institute on Aging (NIA) has shown that the PS1 gene (Presenlin 1) is essential to the function of lysosomes, a cell component that digests and recycles unwanted proteins. Mutations of the PS1 gene have been linked with early onset Alzheimer’s.

Healthy PS1 genes activate lysosome enzymes in a process called autophagy, or the digesting of waste proteins. Autophagy is the cell’s main process of recycling cellular debris and unwanted proteins. These wastes occur naturally, but are overproduced in diseases such as Alzheimer’s and Parkinson’s disease. Mutations in the PS1 gene disrupt autophagy. This impairs the neuron
cells ability to rid itself of waste proteins such as amyloid fragments. The buildup of amyloid fragments and plaque are a hallmark symptom of Alzheimer’s.

Causation of Alzheimer’s Disease may prove to be the result of multiple factors, however, since a disruption in brain cell’s normal cleansing and recycling system appears to promote AD, focusing on a restoration of this process of autophagy offers a promising new therapeutic approach in bringing the disease under control.

At the present time, AD has been found to commence it’s silent attack within the brain cells as much as 10 to 15 years before the symptoms start to become readily apparent to the AD victim and their family members.

What if a gene therapy treatment could be developed that would correct both the mutations of the PS1 gene (causing early onset AD) and prevent the shutdown of the cell’s digesting and recycling process of waste?

This particular line of research is one to keep an eye on going forward.