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2005 Grant - Pericak-Vance
Identifying the Chromosome 12q Gene: Sifting Through the Haystack
Margaret A. Pericak-Vance, Ph.D.
Durham, North Carolina
2005 Investigator-Initiated Research Grant
The association of four genes with Alzheimer's disease has been well-established now for several years. Mutations in three genes cause the rare, inherited form of Alzheimer's that usually affects people in middle or late middle age. A certain variation in another gene is associated with an increased risk of developing the more common late-onset Alzheimer's disease. While researchers believe that there may be several more such risk, or susceptibility, genes, and while they have found a number of important "leads," these genes are proving difficult to identify.
Margaret A. Pericak-Vance, Ph.D., and colleagues are concentrating on a region of particular interest on chromosome 12. Several studies comparing the genetic profiles of families affected by late-onset Alzheimer's disease has done much to narrow the search to a few relatively narrow regions on this chromosome.
The Pericak-Vance research team suspected that a chromosome 12 susceptibility gene remained elusive because its risk-associated form may appear in only a certain subset of people that share some other genetic trait. This thinking has narrowed their search to a more defined region, and they will now focus on "reading" specific genetic code in this region and comparing genetic data from this subset of people in more detail.
This work may contribute valuable data to the painstaking process of identifying and confirming the role of genetic risk in Alzheimer's disease. As with previous findings about Alzheimer-associated genes, this work may contribute to our understanding of both risks and disease processes.