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Four New Genes Linked to Alzheimer's

Identified genes offer portal into what causes Alzheimer’s disease

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April 4, 2011 | by Erin White

CHICAGO --- In the largest study of its kind, researchers from a consortium, including Northwestern University Feinberg School of Medicine, identified four new genes linked to Alzheimer’s disease. Each gene individually adds to the risk of having this common form of dementia later in life. The discovery is a major advance in the field of Alzheimer’s disease research. The findings appear in the current issue of Nature Genetics.

The study, conducted by the Alzheimer’s Disease Genetics Consortium and led by the University of Pennsylvania School of Medicine, the University of Miami and the Boston University School of Medicine, is the result of a large collaborative effort with investigators from 44 universities and research institutions in the United States.

Researchers from Feinberg’s Cognitive Neurology and Alzheimer's Disease Center contributed DNA samples from patients diagnosed with Alzheimer's to the study, said Marsel Mesulam, M.D., director of the center, the Ruth and Evelyn Dunbar Professor of Psychiatry and Behavioral sciences and a neurologist at Northwestern Memorial Hospital.

“We expect Northwestern researchers affiliated with our Alzheimer's Disease Center to follow the leads provided by this study and explore new therapeutic options,” Mesulam said.

Until recently, only four genes associated with late-onset Alzheimer's have been confirmed, with the gene for apolipoprotein E-e4, APOE-e4, having the largest effect on risk. This study adds another four -- MS4A, CD2AP, CD33, and EPHA1 - and contributes to identifying and confirming two other genes, BIN1 and ABCA7, thereby doubling the number of genes known to contribute Alzheimer's disease.

“Right now there is no effective treatment for Alzheimer’s,” Mesulam said. “But, if we identify specific protein abnormalities associated with these risk genes, we may be able to develop novel therapeutic approaches.”

This new gene discovery will also help contribute to predicting who will develop Alzheimer’s disease, which will be important when preventive measures become available. Knowing these risk genes will also help identify the first disease-initiating steps that begin in the brain long before any symptoms of memory loss or intellectual decline are apparent. This knowledge will help researchers understand the events that lead to the destruction of large parts of the brain and eventually the complete loss of cognitive abilities.