Investigators Find Gene Linked to Risk of Late-Onset Alzheimer Disease

Researchers have identified a gene that appears to increase a person's risk of developing late-onset Alzheimer disease. The gene, abbreviated MTHFD1L, is located on chromosome six.

The study will be presented at the American Academy of Neurology's 62nd Annual Meeting in Toronto, which concludes on April 17.

The investigators looked at gene variations throughout the human genomes of 2,269 people with late-onset Alzheimer disease and 3,107 people without the disease. They found that individuals with a particular variation in MTHFD1L may be almost twice as likely to develop Alzheimer disease as those without the variation.

“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 disease,” says Margaret Pericak-Vance, Ph.D., principal investigator of the study and director of the University of Miami Miller School of Medicine's John P. Hussman Institute for Human Genomics.

“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 disease, this finding may also help us understand how homocysteine levels and blood vessel function in the brain affect Alzheimer disease.”