Gene variation could increase risk for late-onset Alzheimer’s
Jonathan Haines, Ph.D.
PLoS Genetics
Small differences in the genetic sequences of MTHFD1L, a gene on chromosome six, were identified in 2,269 participants with late-onset Alzheimer’s disease and 3,107 without Alzheimer’s disease.
Individuals with the genetic variation were almost twice as likely to develop Alzheimer’s disease, according to co-author Jonathan Haines, Ph.D., director of Vanderbilt’s Center for Human Genetics Research.
“By applying the new tools of genomics we are now making rapid progress in finding out what genetic changes are involved in Alzheimer’s disease,” Haines said.
“These findings will lead to a better understanding of what’s happening in Alzheimer’s disease, and how we can improve treatments.”
In addition to Haines, the collaborative team of researchers was led by Margaret Pericak-Vance, Ph.D., director of the John P. Hussman Institute for Human Genomics at the University of Miami Miller School of Medicine, and Joseph Buxbaum, Ph.D., Department of Psychiatry, Mount Sinai School of Medicine.
“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,” Pericak-Vance said.
“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.”
The World Health Organization estimates there are currently 18 million people worldwide with Alzheimer’s disease, which is projected to nearly double to 34 million by 2025.
“This finding gives us unique insight into possible interactions between genetic and environmental risk factors that contribute to Alzheimer’s disease,” Buxbaum said.
“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.”