A team led by Center for NeuroGenetics investigator’s Lien Nguyen, Ph.D., and Laura Ranum, Ph.D., have discovered a novel genetic mutation and associated buildup of toxic proteins in the brain — a type of buildup distinct from amyloid or tau, proteins that have long been the focus of Alzheimer’s research. According to the findings, which were published in the Proceedings of the National Academy of Sciences, people who carry a specific variation of a GGGAGA (pronounced “GEE-GEE Gaga”) repeat that resides in a gene called CASP8 have more than double the risk (2.2 fold) of developing late-onset Alzheimer’s. This discovery unlocks new directions for Alzheimer’s research and could be used to develop new biomarkers and therapeutic approaches that may lead to better diagnosis and treatments for Alzheimer’s disease.
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