Three mutations in genes associated with Alzheimer disease (AD) are described by researchers in the November issue of The Archives of Neurology, one of the JAMA/Archives journals.
Alzheimer disease (AD) is a complex neurodegenerative disorder often affecting the elderly and characterized by gradual loss of memory and cognitive decline, according to the article. AD is often accompanied by a buildup of certain proteins or plaques in the brain. Since 1991, the results of genetic studies have led to the identification of gene mutations and variations that can either cause AD or increase the risk for developing the disease. Familial Alzheimer disease (FAD), which accounts for approximately 5 percent to 10 percent of all cases of AD, has been found to influenced by mutations on genes coding for presenilin. Presenilin is a protein that has been associated with plaque formation.
Sandro Sorbi, M.D., of the University of Florence, Italy and colleagues obtained DNA samples from 45 individuals with FAD. Participants were outpatients from the neurology departments at the Universities of Florence and Parma, and the Santa Maria Nuova Hospital in Reggio Emilia, Italy. The authors conducted genetic studies to screen certain genes for mutations associated with FAD.
Sandro Sorbi | EurekAlert!
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