New Gene Linked to Alzheimer's Risk

September 24, 2010

Researchers have identified a gene that seems to increase one's risk of developing late-onset Alzheimer's disease.

Researchers from the University of Miami Miller School of Medicine have identified a gene, MTHFD1L on chromosome six, that seems to increase one’s risk of developing late-onset Alzheimer’s disease (AD).

The research, published yesterday in the open-access journal PLoS Genetics, look at variations throughout the human genomes of 2,269 people with late-onset AD and 3,107 controls. Led by Margaret Pericak-Vance, PhD, director, John P. Hussman Institute for Human Genomics, the researchers were able to pinpoint even the smallest differences in genetic sequences between the two study groups and therefore determine that those with a specific variation in MTHFD1L might be nearly twice as likely to develop AD as those without the variation.

"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 Adam Naj, PhD.

Adding to Naj’s sentiments, Pericak-Vance said, “Identifying 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 addition, variations of the MTHFD1L gene have been reported to possibly increase the risk of coronary artery disease. Since the function of blood vessels in the brain may affect Alzheimer's disease, this finding may also help us understand how homocysteine levels and blood vessel function in the brain affect Alzheimer's disease."

Weighing in on the subject, Jonathan Haines, PhD, Principal Investigator, Vanderbilt University School of Medicine, stated, “By applying the new tools of genomics we are now making rapid progress in finding out what genetic changes are involved in Alzheimer disease. These findings will lead to a better understanding of what's happening in Alzheimer disease, and how we can improve treatments.”

Co-author Joseph Buxbaum, PhD, Mount Sinai School of Medicine, New York, NY, added his two cents, saying, “This finding gives us unique insight into possible interactions between genetic and environmental risk factors that contribute to AD. 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."