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Spring 2007 NewsletterNew Alzheimer's Gene DiscoveryIn conjunction with colleagues from the University of Toronto and Columbia University, senior researchers affiliated with the Boston University Alzheimer’s Disease Center have uncovered a major new gene associated with Alzheimer’s disease (AD). Published in the February 2007 issue of Nature Genetics, data from four different ethnic groups support a link between the SORL1 gene and late-onset AD. This discovery is only the second gene to be linked to late-onset AD. Apolipoprotein E (APOE), identified in 1993, was the first late-onset AD gene to be discovered. This new genetic discovery was uncovered when the international research group found that variants of the SORL1 gene are more common among people with late-onset AD as compared to healthy adults of the same age. The international research team believes that these SORL1 variations may be more common in people with AD because the SORL1 gene is functioning improperly. Through the amyloid precursor protein, SORL1 may increase amyloid beta peptides in the brain. Increased amyloid beta peptides are a key neuropathological feature of AD. The SORL1 finding is based on a five-year study that involved DNA samples from more than 6,000 research volunteers. These data are particularly unique because most prior studies on the genetics of AD have focused on White populations of European ancestry. In contrast, the SORL1 discovery was replicated across four distinct ethnic and racial groups, including Whites of European ancestry, African-Americans, Caribbean-Hispanics, and Israeli-Arabs. Dr. Lindsay Farrer, Chief of the Genetics Program at Boston University School of Medicine, led the local research effort. The University of Toronto research team was led by Dr. Peter St. George-Hyslop, Director of the Centre for Research in Neurodegenerative Diseases, and the Columbia University Medical Center research team was led by Dr. Richard Mayeux, Co-Director of the Taub Institute of Research on Alzheimer’s Disease and the Aging Brain. In March, Dr. St. George-Hyslop presented the SORL1 research findings at the Boston University Alzheimer’s Disease Center lecture series, where he emphasized that additional data supporting SORL1’s association with AD are needed. “This finding demonstrates the importance of international collaboration and is exciting preliminary information that needs to be validated.” Dr. Farrer believes this discovery is an important advancement in the understanding of genetics and AD, but he cautions that much more work lies ahead. “While we have identified several variants in SORL1 that show the same pattern of association across multiple ethnic groups with very different genetic makeup and lifestyle characteristics, we have not yet discovered the mechanism linking SORL1 gene variants to altered functioning of the SORL1 protein that may accelerate the process leading to AD.” |
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