Alzheimer’s disease researchers see the search for the gene responsible for the disease akin to the quest for the Holy Grail.

Shirley E. Poduslo, PhD, neuroscientist, Medical College of Georgia Schools of Medicine and Graduate Studies, studied the genetic profile of 2 large Georgia families with high rates of late-onset Alzheimer’s disease. Poduslo was shocked when she found that the single nucleotide polymorphisms (SNP) occurred 9 out of 10 times in affected family members. SNPs also were found in the DNA of 36% of 200 late-onset patients stored in the Alzheimer’s DNA Bank.

The gene variation was in the TRPC4AP; part of a large family of genes that is not well-studied, but believed to regulate calcium. Calcium is needed throughout the body and its dysregulation can result in inflammation, nerve cell death and possibly plaque formation.

The next step is to identify the specific genetic mutation responsible. The mutation could be a deletion of some of the nucleotides, an insertion into the gene, or something that prevents the gene from duplicating correctly.