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Press Release

EMBARGOED FOR RELEASE UNTIL 7 AM ET, April 14, 2010

New Gene Associated with Increased Risk of Alzheimer鈥檚 Disease

TORONTO -

Researchers have identified a gene that appears to increase a person鈥檚 risk of developing late-onset Alzheimer鈥檚 disease, the most common type of Alzheimer鈥檚 disease. The research will be presented as part of the late-breaking science program at the 62nd Annual Meeting in Toronto, April 10 鈥 17, 2010. The gene, abbreviated MTHFD1L, is located on chromosome six. 鈥淥nly recently have common variants in genes other than APOE been convincingly shown to be associated with a person鈥檚 risk of developing late-onset Alzheimer鈥檚 disease,鈥 said senior author Margaret Pericak-Vance, PhD, the principal investigator of the study and Director of the University of Miami Miller School of Medicine鈥檚 John P. Hussman Institute for Human Genomics in Miami, Florida. Researchers looked at gene variation throughout the human genomes of 2,269 people with late-onset Alzheimer鈥檚 disease and 3,107 people without the disease through what鈥檚 known as a genome-wide association study. Such studies involve looking at long stretches of DNA to identify small differences in the genetic sequence between people with and without Alzheimer鈥檚 disease. The study found that individuals with a particular variation in the gene MTHFD1L may be almost twice as likely to develop Alzheimer鈥檚 disease as those people without the variation. 鈥淲e are hopeful our identification of MTHFD1L as a risk gene for Alzheimer鈥檚 disease will help us to better understand how this disease develops and potentially serve as a marker for people who may be at increased risk,鈥 said Adam Naj, PhD, with the University of Miami Miller School of Meidicne鈥檚 John P. Hussman Institute for Human Genomics in Miami and the first author of the abstract reporting the discovery. 鈥淚dentifying this gene is important because the gene is known to be involved in influencing the body鈥檚 levels of homocysteine, and high levels of homocysteine are strong risk factor for late-onset Alzheimer鈥檚 disease,鈥 said Pericak-Vance. 鈥淚n 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鈥檚 disease, this finding may also help us understand how homocysteine levels and blood vessel function in the brain affect Alzheimer鈥檚 disease.鈥 The World Health Organization estimates that there are currently 18 million people worldwide with Alzheimer鈥檚 disease, and this figure is projected to nearly double to 34 million by 2025. There are currently at least five million Americans living with Alzheimer鈥檚 disease today. The study was supported by the National Institutes of Health and the National Institute on Aging. The research team responsible for the work includes collaborators Jonathan Haines, PhD, from Vanderbilt University Medical Center and Joseph D. Buxbaum, PhD with Mount Sinai School of Medicine. The 好色先生鈥檚 Annual Meeting is the world鈥檚 largest gathering of neurologists with more than 2,300 scientific research presentations on brain disorders.

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The 好色先生, an association of more than 22,000 neurologists and neuroscience professionals, is dedicated to promoting the highest quality patient-centered neurologic care. A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as Alzheimer鈥檚 disease, Parkinson鈥檚 disease, ALS (Lou Gehrig鈥檚 disease), multiple sclerosis, stroke and migraine. For more information about the 好色先生, visit http://www.aan.com.

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