PROVO — A gene variation that may predict how quickly Alzheimer's disease will progress had been identified by an international team of researchers that includes a Brigham Young University biology professor. The finding may open the door one day to treatments that slow or prevent the disease's progression.
BYU professor John S.K. Kauwe is a co-author on the paper, published in the journal PLoS Genetics. He said the study's lead institution, Washington University School of Medicine in St. Louis, and BYU have been teaming up on Alzheimer's research for nearly two years.
More than 4.5 million Americans have Alzheimer's disease, which is marked by amyloid beta plaques and neuro-fibrillary "tangles" of the protein tau (ptau). Both a-beta and ptau are central to the pathology of Alzheimer's and can be found in the brain at autopsy. Kauwe said that evidence of Alzheimer's can also be found by looking for the A-beta and tau proteins in cerebrospinal fluid and that's what they did for this research.
"We screened a large number of genes that are thought to influence ptau levels," he said, and identified a particular genetic variant that corresponds to elevated ptau levels in the cerebrospinal fluid. In those with elevated levels, they found more tangles in the brain than in that of individuals who didn't carry the variant.
The researchers believe that this variant affects how fast the disease progresses. And it seemed to be confirmed when they looked at samples for which they had the person's history. Higher ptau levels correspond to faster-moving disease.
The researchers hope that the ability to measure the tau protein in the cerebrospinal fluid and knowing the location of a genetic marker will allow drug companies to create treatments to inhibit ptau accumulation and thus prevent or slow some of the disease's devastating neurological effects.
But Kauwe cautions people not to expect an immediate treatment based on the finding. "We're excited about this, but understand that it's the first step of a long journey," he said.
Next, they plan to do a genome-wide association study of CSF a-beta levels and ptau levels to find other genes that harbor variants that influence tau.
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