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  • Researchers identified a gene associated with aggressive Alzheimer's disease. 
  • The complicated study analyzed the DNA of 846 patients.
  • BYU's John S.K. Kauwe is co-lead author of the paper in PLoS Genetics. 

A gene variation that appears to predict the rate at which Alzheimer’s disease will progress has been uncovered by an international team of Alzheimer’s disease experts. Brigham Young University biology professor John S.K. Kauwe is co-first author on the paper.

Published in the open-access journal PLoS Genetics, the findings help determine how rapidly Alzheimer’s patients may develop full-blown dementia after their diagnosis.

Alzheimer’s disease, one of the most common neurodegenerative disorders, affects over 4.5 million people in the United States alone. Recent studies have found the presence of a particular form of the tau protein (ptau) in cerebrospinal fluid (CSF) to be an indicator of Alzheimer’s disease. By looking at single DNA variations in 846 patients, the researchers were able to identify a genetic marker, linked to elevated ptau levels, that is associated with rapid progression of the disease.

“A greater understanding not just of disease risk, but of disease progression, may be an important resource in the ongoing search for cures or preventive measures,” said Kauwe. “These findings also illustrate that understanding the genetic control of proteins that are related to disease pathology can provide important insights into the overall mechanisms of disease. I am optimistic that future applications of this approach will lead to a deeper understanding of this devastating disease.”

The genetic finding, combined with the ability to measure ptau in the CSF, may mean that drug inhibition of tau accumulation in the CSF might prevent or delay some of the devastating effects of Alzheimer’s disease.  This knowledge might initially be most useful in the design of clinical trials, according to the authors; if researchers know in advance that particular patients are going to progress at a rapid rate, they could potentially better evaluate the effects of drugs designed to slow the progression of Alzheimer’s disease.

This work is the result of an ongoing collaboration between BYU and the Washington University School of Medicine in St. Louis, the lead institution on this project.