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Gene Linked to Increased Risk of Alzheimer’s Disease

Adapted by Steven Hoover from the 9/24/2010 EmaxHealth posting by Deborah Mitchell

Researchers are one step closer to discovering the genetic precursors to lateonset Alzheimer’s disease, the most common type of the disease. Investigators from four institutions, including Dr. Joseph Buxbaum of Mount Sinai Medical Center, collaborated to discover the role of variations in a gene named MTHFD1L. The presence of this altered gene appears to result in a nearly twofold increase in an individual’s risk of developing Alzheimer’s.

The research was conducted by a team of researchers led by Margaret Pericak-Vance, Ph.D., director of the John P. Hussman Institute for Human Genomics (HIHG) at the University of Miami Miller School of Medicine (details appear September 23 in the open-access journal PLoS Genetics). According to Dr. Pericak-Vance, identification of this gene “is important because the gene is known to be involved in influencing the body’s levels of homocysteine, and high levels of homocysteine are a strong risk factor for late-onset Alzheimer’s disease.” In a previous study conducted at Queen’s University Belfast and published in Stroke, it was reported that even moderate elevations of homocysteine were associated with a nearly threefold increased risk for Alzheimer’s disease. Homocysteine is an amino acid believed to be toxic to blood vessels. “We are hopeful our identification of MTHFD1L as a risk gene for Alzheimer’s disease will help us to better understand how this disease develops and potentially serve as a marker for people who may be at increased risk,” said co- author Dr. Adam Naj.

“This finding gives us unique insight into possible interactions between genetic and environmental risk factors that contribute to AD,” said Dr. Buxbaum. “We know of environmental and lifestyle factors that can impact homocysteine levels and it will be important to understand whether variations of the MTHFD1L gene can modulate these effects.”

This latest discovery of a gene variation that appears to increase the risk of this devastating disease “will lead to a better understanding of what’s happening in Alzheimer’s disease, and how we can improve treatment,” added Dr. Jonathan L. Haines of Vanderbilt Center for Human Genetics Research. This discovery comes at a time when new insights into the prevention and treatment of Alzheimer’s disease are desperately needed. The latest statistics released by the Alzheimer’s Association show that about 5.3 million Americans have this form of dementia, with a nearly threefold increase anticipated by 2050.


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