Prion diseases and genetic susceptibility

Authors : Canan Güven, Iraz Akış Akad

Pages : 65-74

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Publication Date : 2025-04-30

Article Type : Review Paper

Abstract :Prion diseases, also known as Transmissible Spongiform Encephalopathies (TSEs), are fatal neurodegenerative disorders caused by misfolding of the prion protein (PrP). These diseases affect both humans and animals, leading to severe neurological deterioration. Prion diseases in humans include Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), fatal familial insomnia (FFI), and kuru. Known forms in animals include Scrapie, Bovine Spongiform Encephalopathy (BSE), Chronic Wasting Disease (CWD), Transmissible Mink Encephalopathy (TME) and Feline Spongiform Encephalopathy (FSE). One of the key factors affecting susceptibility to prion disease is genetic variation in the PRNP gene, which encodes PrP. Among the most studied polymorphisms, the M129V variant in humans plays a major role in disease susceptibility. Homozygosity for methionine (M/M) at codon 129 increases the risk of prion diseases, while heterozygosity (M/V) provides partial resistance. Similarly, in animals, specific PRNP polymorphisms such as Q171R in sheep confer resistance to scrapie, while certain genetic variants in deer affect CWD susceptibility. These polymorphisms are important for understanding disease transmission, species barriers, and potential resistance mechanisms. This review comprehensively examines prion diseases in both humans and animals, focusing on PRNP polymorphisms and their effects on disease susceptibility. Understanding these genetic variations is important for disease prevention, risk assessment, and development of potential treatment strategies.
Keywords : prion diseases, PRNP polymorphisms, transmissible spongiform encephalopathies, genetic susceptibility.

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