The study reflects the collaborative effort of investigators from 44 universities and research institutions in the United States, led by Gerard D. Schellenberg, PhD, at Penn, with primary analysis sites at Miami, led by Margaret A. Pericak-Vance, PhD, and at Boston, led by Lindsay A. Farrer, PhD.
"This is the culmination of years of work on Alzheimer's disease by a large number of scientists, yet it is just the beginning in defining how genes influence memory and intellectual function as we age. We're all tremendously excited by our progress so far, but much remains to be done, both in understanding the genetics and in defining how these genes influence the disease process," Schellenberg said.
Until recently, only four genes associated with late-onset Alzheimer's had been confirmed, with the gene for apolipoprotein E-e4 (APOE-e4) having the largest effect on risk. The Nature Genetics studies add another four: MS4A, CD2AP, CD33, and EPHA1. The studies also contributed to the identification and confirmation of two other genes, BIN1 and ABCA7.
The researchers' ultimate aims are two-fold. First, identification of new Alzheimer's disease genes will provide major clues as to its underlying cause. Genetic studies can also provide new insights into the molecules at the center of the disease. Such knowledge is critical for drug discovery, as currently available treatments are only marginally effective.
Second, gene discovery of the type highlighted in the Nature Genetics article will contribute to the ability to predict who is at greatest
|Contact: Karin Eskenazi|
Columbia University Medical Center