Sporadic Creutzfeldt-Jakob Disease: A Genome-Wide Association Study
Sporadic Creutzfeldt-Jacob disease (sCJD), the most common form of human prion disease, is characterized as a rapidly fatal neurodegenerative process caused by propagation of a transmissible misfolded prion protein gene (PRNP). However, selective PRNP mutations only account for a small subset of sCJD cases, leading to interest in discovering additional genetic risk factors. Through a two-stage study design using genome-wide association studies, the authors have identified two novel risk loci, STX6 and GAL3ST1, which encode for proteins involved in cellular trafficking of prions and sphingolipid metabolism, respectively. These findings provide insights into sCJD pathogenesis and are an avenue for further research.
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