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Scientists Detect Variant Gene in Alzheimer’s Disease
MIL/Agenies, Jan 15, 2007. Nicholas Wade


January 15, 2007 - A variant gene involved in Alzheimer’s disease has been detected through study of Dominican families living in Upper Manhattan, scientists are reporting.

The families have about three times the usual incidence of Alzheimer’s, a finding that led Dr. Richard Mayeux of Columbia University in 1994 to start looking for anything in their environment that could be touching off the disease.

Finding nothing, he decided to search for a genetic cause, a task that seemed worth trying because the Dominican Republic, where the families came from, is a single, long-isolated population in which variant genes are easier to detect.

He enlisted three colleagues who were studying Alzheimer’s in other populations, in a strategy of looking for mutations in a set of seven genes. The genes are known to be involved in directing the traffic of proteins inside cells, and are plausible candidates for contributing to Alzheimer’s because the disease seems to result from a buildup of protein inside the nerve cell.

Having genetically screened some 6,000 people, the researchers found that people with Alzheimer’s had distinguishing genetic markers in just one of the seven genes, known as SORL1. Patients with the variant forms of the gene produce less SORL1 than usual, leading to a different traffic pattern and allowing a particular protein in nerve cells, known as the amyloid precursor protein, to be converted into toxic form.

The finding is being reported in Monday’s issue of the journal Nature Genetics by four teams led by Dr. Mayeux, Dr. Peter St. George-Hyslop of the University of Toronto, Dr. Lindsay Farrer of Boston University and Dr. Steven Younkin of the Mayo Clinic Jacksonville.

The researchers have not yet isolated the specific mutation that affects the gene, but they believe it reduces production of the gene’s protein and does not harm the protein itself. That raises the possibility of developing a drug to stimulate extra production of the protein, which would be expected to have a protective effect.

Full Story:
http://www.nytimes.com/2007/01/14/health/14cnd-newgene.html?hp&ex=1168837200&en=2905d0849909d7c6&ei=5094&partner=homepage



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