A novel mechanism of phenotypic heterogeneity in Creutzfeldt-Jakob disease.

ABSTRACT: One of remarkable features of sporadic Creutzfeldt-Jakob disease (sCJD) is the great phenotypic variability. Understanding the molecular basis of this variability has important implications for the development of therapeutic approaches. It is well established that, in many cases, phenotypic heterogeneity of sCJD is under control of two determinants: the genotype at the methionine (M)/valine (V) polymorphic codon 129 of the human prion protein gene and the type, 1 or 2, of the pathogenic and disease-related form of the prion protein, PrP^D. However, this scenario fails to explain the existence of distinct heterozygous sCJDMV2 subtypes, where heterogeneity occurs without any variation of the 129 allotype and PrP^D type. One of these subtypes, denoted sCJDMV2C, associated

SUBMITTER: Nemani SK 

PROVIDER: S-EPMC7304206 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature