Families shed light on likely causative gene for Alzheimer's
"We were shocked; we had never seen anything like this before," Dr. Poduslo says of findings published in the American Journal of Medical Genetics. "If we looked at unaffected spouses, their SNPs were all different. The variants consistently found in affected siblings are suggesting there is something in this gene. Now we have to go back and find what is in this gene that is making it so unique for Alzheimer's patients."
The variation was in the TRPC4AP gene, part of a large family of genes that is not well-studied but is believed to regulate calcium. Calcium is needed throughout the body but its dysregulation can result in inflammation, nerve cell death and possibly plaque formation as well, she says.
The finding provides new directions for research and possibly new treatment targets, Dr. Poduslo says. It also shows the important role large families affected by a disease can have in determining the cause of the disease.
The specific genetic mutation responsible still must be identified and will require sequencing the very large gene, or determining the order of the base pairs that form the rungs of the ladder-like DNA, Dr. Poduslo says. An SNP represents a change in either side of a rung. "The mutation could be a deletion of some of the nucleotides, could be an insertion, or something in the promoter gene that turns the gene off so it's never transcribed. It could be a wide variety of things, and that is what our next step is to identify the mutation." She'll work with The Scripps Research Institute in Jupiter, Fla., to expedite the required high-throughput analysis.
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