In‐depth examination of PrP ^Sc in Holstein cattle carrying the E211K somatic mutation of the bovine prion protein gene ( PRNP )

Abstract

Prion diseases are transmissible spongiform encephalopathies caused by deleterious prion protein (PrP Sc ) derived from normal prion protein (PrP C ), which is encoded by the prion protein gene (PRNP). We performed an in-depth examination to detect PrP Sc by using enzyme immunoassay (EIA), real-time quaking-induced conversion reactions (RT-QuIC) and protein misfolding cyclic amplification (PMCA) in nine brain tissues derived from three Holstein cattle carrying the E211K somatic mutation of the bovine PRNP gene. The EIA, RT-QuIC and PMCA analyses were not able to detect the PrP Sc band in any tested samples. To the best of our knowledge, this report is the first to describe an in-depth examination of PrP Sc in cattle carrying the E211K somatic mutation of the bovine PRNP gene.

First report of a strong association between genetic polymorphisms of the prion protein gene ( PRNP ) and susceptibility to chronic wasting disease in sika deer ( Cervus nippon )

“…In animals, the E211K germline mutation of the bovine PRNP gene, which is homologous to E200K of genetic CJD, was identified in offspring of atypical BSE‐infected cattle (Won et al., 2020). In addition, high rates of the E211K somatic mutation of the bovine PRNP gene were found in the medulla oblongata of Korean Holstein cattle (Kim, Park, et al., 2021; Kim, Won, et al., 2021). Since mutation of the PRNP gene plays a key role in the occurrence of prion diseases, investigation of mutations of the PRNP gene is important for controlling the spread of these conditions.…”

Association Study of the M132L Single Nucleotide Polymorphism With Susceptibility to Chronic Wasting Disease in Korean Elk: A Meta-Analysis

“…Prion diseases are infectious brain proteinopathies caused by a pathogenic form of prion protein (PrP Sc ) converted from an endogenous form of prion protein (PrP C ) and are classified into several types in a wide range of mammalian hosts: Creutzfeldt-Jakob disease (CJD), fatal familial insomnia (FFI) and Gerstmann-Sträussler-Scheinker syndrome (GSS) in humans; scrapie in sheep and goats; bovine spongiform encephalopathy (BSE) in cattle; and chronic wasting disease (CWD) in the Cervidae family (1)(2)(3)(4)(5)(6)(7). After CWD was first reported in mule deer in the USA in the 1967, CWD has been reported globally, including in North America, South Korea and Scandinavia, in variable cervid species, such as white-tailed deer, elk, moose, red deer and reindeer (8)(9)(10)(11).…”

Novel Polymorphisms and Genetic Characteristics of the Prion Protein Gene in Pheasants

“…PrP Sc is characterized by a higher amyloid propensity and a higher proportion of β-sheet structure compared to PrP C . Prion diseases have been classified as various types including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS) and fatal familial insomnia (FFI) in humans, bovine spongiform encephalopathy (BSE) in cattle, feline spongiform encephalopathy (FSE) in cats and cheetahs, transmissible mink encephalopathy in minks, scrapie in sheep and goats and chronic wasting disease (CWD) in elk and deer (2)(3)(4)(5)(6)(7).…”

“…In humans, PRNP codons 129 and 219 SNPs are associated with susceptibility to CJD. In particular, M129V and E219K heterozygotes confer resistance to CJD (2)(3)(4). In sheep, the susceptibility to scrapie is associated with haplotypes of PRNP polymorphisms at codons 136, 154 and 171.…”