Research Highlight: Discovery of the CALHM1 P86L Polymorphism

Dr. Fabien Campagne (Weill Medical College of Cornell University) with Dr. Philippe Marambaud (at the Feinstein Institute for Medical Research, NorthShore LIJ and Albert Einstein College of Medicine) and an international team of investigators from the US, France, UK and Italy reported the identification of a gene polymorphism associated with increased risk for late-onset Alzheimer's disease. Using a bioinformatics approach to screen for genes preferentially expressed in the hippocampus, the investigators identified a short list of gene candidates. The CALHM1 gene, previously of unknown function, is located on the consensual LOAD risk locus on chromosome 10 (at 10q24) and was found to be a component of a novel type of calcium channel. The findings are important because the polymorphism in CALHM1 associated with LOAD can control intracellular calcium levels and modulate amyloid beta production, the protein that accumulates and forms the senile plaques in the brain of Alzheimer's patients. Because pharmaceutical companies have had considerable success targeting ion channels in the past, and because the expression of CALHM1 is restricted to the brain, these findings suggest a new pharmacological target for the development of treatments against Alzheimer's disease. These findings also advance our understanding of a genetic component of the disease, which will be useful to develop early diagnostic tests.

Read the article at cell.com

Fabien Campagne, PhD. is an Assistant Professor in the Institute for Computational Biomedicine and in the Department of Physiology and Biophysics at the Weill Medical College of Cornell University, New York, NY (WMC). Dr. Campagne also serves as Bioinformatics Officer of the Institute for Computational Biomedicine, Co-Director of the Computational Genomics Core Facility and Associate Core Director for the Biomedical Informatics Core of the Clinical and Translational Science Center at WMC.

Philippe Marambaud, PhD. is an Assistant Investigator at the Feinstein Institute for Medical Research at North-Shore LIJ, Manhasset, NY. He also holds the position of Assistant Professor at the Albert Einstein College of Medicine, Bronx, NY.