NR ACUA
AU Collinge,J.; Palmer,M.S.
TI Molecular genetics of human prion diseases
QU Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 1994 Mar 29; 343(1306): 371-8
IA http://www.journals.royalsoc.ac.uk/media/mh9xd63lrn5kyw4bhkdr/contributions/3/6/8/6/36865485n45021x6.pdf
PT journal article; review; review, tutorial
AB Human prion diseases occur in inherited, sporadic and acquired forms. The inherited forms are associated with coding mutations in the prion protein gene and the identification of one of these pathogenic mutations allows definitive diagnosis and has resulted in a widening of the previously recognized phenotypic spectrum of these diseases. Study of acquired prion disease provides evidence for genetic susceptibility to development of disease following treatment with contaminated pituitary hormones. Sporadic prion disease occurs predominantly in individuals homozygous with respect to a common PrP polymorphism at residue 129. The identification of pathogenic PrP alleles and the role of the codon 129 PrP gene polymorphism in determining susceptibility to prion disease provides strong support for the idea that an abnormal isoform of PrP, PrPsc, is the principal constituent of the prion and that its propagation involves direct PrP-PrP interactions which occur most readily between identical PrP molecules.
IN (Review) Menschliche Prion-Krankheiten scheinen sporadisch auftreten, als Infektion übertragen, oder vererbt werden zu können. Den vererbten Formen von Prion-Krankheiten konnten Mutationen des Prionproteins zugeordnet werden. Sporadisch werden hauptsächlich Menschen von Prion-Krankheiten betroffen, die an der Aminosäure 129 des Prionproteins homozygot sind.
ZR 66
MH Alleles; Animal; Animals, Genetically Modified; Creutzfeldt-Jakob Syndrome/genetics/transmission; Disease Models, Animal; Heterozygote; Homozygote; Human; Iatrogenic Disease; Molecular Biology; Mutation; PrPsc Proteins; Prion Diseases/*genetics/transmission; Prions/genetics
AD Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, Imperial College, London, U.K.
SP englisch
PO England
OR Prion-Krankheiten C