Genetic risk factor for Alzheimer’s disease - CALHM1
Thursday, June 26th, 2008The newly discovered gene called calcium homeostasis modulator 1 (CALHM1), protein produced from the gene acts as Calcium channel. Research evidence shows that different variants of the gene also influence the levels of amyloid-ß peptides. The risk gene leads to a partial loss of function, which means that less calcium gets into the cell and it weakens the signals normally regulated by calcium. The researchers determined that one of these signals controls the levels of amyloid peptides, the building blocks of the characteristic senile plaques.
Researchers at The Feinstein Institute for Medical Research and Albert Einstein College of Medicine found, a variant of CALHM1 is found more frequently in people with Alzheimer’s disease than in those without. They estimate that a single copy of that variant, which results in a proline-to-leucine amino acid substitution (designated as p86L because it occurs at codon 86), increases one’s chance of getting late-onset Alzheimer’s disease by 1.44-fold.
Other genitic risk factors identified for late-onset Alzheimer’s is Apo-E4. Just one copy of this gene variant triples the risk of the disease.

