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Trio of Gene Variants Discovered That May Raise Alzheimer's Risk


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Experts estimate that as many as 5.3 million Americans are living with Alzheimer's disease, which progressively kills brain cells. Alzheimer's typically attacks people over the age of 65. Symptoms include a range of cognitive, psychiatric and physical problems that eventually lead to death.

The sheer global impact of the illness and the lack of a cure were the driving forces behind the current research.

According to Amouyel, "the identification of these three genes has been possible, thanks to two major elements: first, the possibility to compare thousands of patients through a major collaboration between scientists; and second, the capacity to analyze genetic markers distributed all over the entire genome with high-tech tools, such as DNA chips."

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Relatively little is known about how the newly discovered genes may increase the risk of Alzheimer's. But researchers have noted increased levels of CLU in the brains and cerebrospinal fluids of Alzheimer's patients. PICALM may play a role in the health of nerve cell synapses and may affect beta-amyloid deposits in the brain.

Each of the new genes probably contributes about 8 percent to an individual's risk of developing Alzheimer's, Goate said. In addition to genetic factors, there are likely to be environmental and lifestyle variables that also contribute to the risk, she noted.

"Identifying gene variants like CLU and PICALM advances our understanding of the many genetic factors that may contribute to overall risk for this devastating neurological disorder," Marcelle Morrison-Bogorad, associate director of NIA's neuroscience and neuropsychology of aging program, said in a statement. "This knowledge may then lead to novel disease pathways that can be targeted to develop new treatments."

In another genetic discovery reported in the same journal, Dutch researchers say they have found two new gene variants linked to amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease. The variants appear to play a role in the neural pathways that are involved in this deadly disease, which involves the steady loss of neurons that results in muscle atrophy, paralysis and, finally, death.

More information

The Alzheimer's Association has more on the disease.

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Copyright © 2009 ScoutNews, LLC. All rights reserved.
Last updated 9/6/2009

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SOURCE: Philippe Amouyel, M.D., Ph.D., Institut Pasteur de Lille, France; Alison Goate, professor, genetics in psychiatry, Washington University School of Medicine, and member, Medical & Scientific Advisory Council, Alzheimer's Association, Chicago; Sept. 6, 2009, Nature Genetics, online


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