Cornelia M. van Duijn, Ph.D.
Erasmus University Medical Center
Rotterdam, Netherlands

2005 Investigator-Initiated Research Grant

To date, only four genes have been firmly linked to Alzheimer’s disease. Mutations in three of them cause rare, inherited forms of the disease, while variants in the fourth have been found to increase the risk of getting the disease. Though scientists generally believe that other Alzheimer-linked genes will be found, progress has been slow. The difficulty partly lies in genetic diversity. Because everyone’s DNA is slightly different (with the exception of identical twins), identifying a few, common, Alzheimer-linked “letters” among the three billion or so that make up everyone’s genetic code is a daunting task.

Cornelia van Duijn, Ph.D., and colleagues will attempt to make that job slightly easier by studying a genetically isolated population. People in such populations typically have more of their genetic code in common. This simplifies the task of finding disease-linked genes.

The scientists have already analyzed several families with a history of Alzheimer’s disease in this population and have found several genetic “loci” or regions that might be linked to the disease. One of these loci contains, in addition to others, a gene for a protein called butyrylcholinesterase, which has been linked to Alzheimer’s through other studies. The researchers now want to focus on three of these loci to hone in on specific letters of the genetic code that might cause or increase the risk for developing Alzheimer’s.