NR AJIQ
AU Peoc'h,K.; Laplanche,J.L.
TI [Genetics of human subacute spongiform encephalopathies]
OT Genetique des encephalopathies spongiformes subaigues humaines
QU Revue du Praticien 1999 May 1; 49(9): 954-8
PT journal article; review; review, tutorial
AB Variations in PRNP, the gene that encodes PrP in humans, play a major role in the genetic predisposition to prion diseases. Mutations in PRNP are found in patients with familial forms and are considered as causative. A coding polymorphism in PRNP (129 Met/Val) defines a predisposing factor to sporadic and acquired forms. Other favouring genes have been searched without real success. Both animal models and cellular models have been constructed to study the molecular mechanisms implied in the disease genesis.
ZR 30
MH Amyloid/genetics; Animal; Creutzfeldt-Jakob Syndrome/*genetics/pathology; Disease Models, Animal; English Abstract; *Genetic Predisposition to Disease; Human; Molecular Biology; *Polymorphism (Genetics); Prions/*genetics; Protein Precursors/genetics; Risk Factors
AD Service de biochimie Hopital Lariboisiere 75475 Paris.
SP französisch
PO Frankreich