Mount Sinai School of Medicine researchers are part of a consortium that has identified four new genes that when present increase the risk of a person developing Alzheimer’s disease later in life. The findings appear in the current issue of Nature Genetics. The consortium also contributed to the identification of a fifth gene reported by other groups of investigators from the United States and Europe.
“Mount Sinai has unique resources that we contributed to the study, having one of the largest brain banks for Alzheimer samples in the world,” said lead Mount Sinai scientist, Joseph Buxbaum, PhD, Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences at Mount Sinai School of Medicine. “Follow up studies of the genes identified, to determine how they affect brain biochemistry, are now possible in our samples, and this can help us understand how the genes contribute to Alzheimer’s disease”
The study, conducted by the Alzheimer’s Disease Genetics Consortium, consisting of investigators from 44 universities and research institutions in the United States, and led by Gerard D. Schellenberg, PhD, at Penn, with primary analysis sites at Miami, led by Margaret A. Pericak-Vance, PhD, and Boston, led by Lindsay A. Farrer, PhD, analyzed more than 11,000 people with Alzheimer’s disease and nearly the same number of elderly people who have no symptoms of dementia. Three additional institutions contributed confirming data, bringing the total number of people analyzed in the study to over 54,000.
The researchers had two main goals for the study. First was the identification of new Alzheimer’s disease genes to provide major clues as to its underlying cause. Genetic studies can provide new insights into the molecules at the center of the disease. Obtaining this type of understanding is critical for drug discovery, since the treatments currently available to patients are only slightly effective.
The second goal was for the gene discovery of the type highlighted in the Nature Genetics article to ultimately 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.