Differential allelic expression of PrP mRNA in carriers of the E200K mutation.
Neurology
; 49(3): 851-6, 1997 Sep.
Article
en En
| MEDLINE
| ID: mdl-9305353
Creutzfeldt-Jakob disease (CJD) linked to the E200K mutation of the prion protein (PrP) gene presents with a wide range of age at disease onset. Since most patients are heterozygous for the mutation, we tested whether differential expression of mutant versus wild-type (wt) PrP may affect the age at disease onset in carriers of the mutation. We measured wt and mutant PrP protein and mRNA in Epstein-Barr virus (EBV)-transformed B cells of either E200K CJD patients or healthy E200K carriers. Our results suggests that while in most healthy carriers the expression of wt PrP was higher than that of E200K PrP, most of the E200K CJD patients express equal levels of both PrP proteins. Similar results were obtained for either PrP protein or PrP mRNA. These results suggest that preferential expression of PrP from the wt allele may modulate the outbreak of the disease in carriers of prion mutations. This notion is consistent with the results obtained in transgenic mice carrying a human PrP gene, which suggest that endogenous PrP protects mice from contracting scrapie after inoculation with human CJD brain. Similar mechanisms may prevail in other inherited diseases with variable phenotypes.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Priones
/
Síndrome de Creutzfeldt-Jakob
/
Heterocigoto
/
Mutación
Límite:
Animals
/
Humans
País/Región como asunto:
Africa
Idioma:
En
Revista:
Neurology
Año:
1997
Tipo del documento:
Article
País de afiliación:
Israel
Pais de publicación:
Estados Unidos