Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease.

ABSTRACT:

Background

No susceptibility genes have been identified in human prion disase, apart from the prion protein gene (PRNP). The gene SPRN, encodes Shadoo (Sho, shadow of prion protein) which has protein homology and possible functional links with the prion protein.

Methods

A genetic screen was carried out of the open reading frame of SPRN by direct sequencing in 522 patients with prion disease, including 107 with variant Creutzfeldt-Jakob disease (vCJD), and 861 healthy controls.

Results

A common coding variant of SPRN, two further single nucleotide polymorphisms (SNPs) and three rare insertion or deletion variants were found. A single base-pair insertion at codon 46, predicted to cause a frameshift and potentially a novel protein, was found in two patients with vCJD but

SUBMITTER: Beck JA 

PROVIDER: S-EPMC2590874 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature