Abstract
Abstract. In the present study polymorphisms in the genes cathepsin B (CTSB), cathepsin D (CTSD), calpain, large polypeptide L2 (CAPN2), kallikrein 1 (KLK1) and transforming growth factor β1 (TGFB1) were investigated for association with scrapie susceptibility in sheep. Therefore single nucleotide polymorphisms in the respective genes were identified and examined for a potential impact on the gene function with different computer programs. Samples of 72 atypical and 104 classical scrapie cases as well as of 443 clinically healthy flock mates were genotyped by PCR-based screening methods. Neither allele frequencies nor genotype frequencies showed significant differences between scrapie positive sheep and control animals in any of the investigated genes.
Highlights
Caspari et al.: cathepsin B (CTSB), cathepsin D (CTSD), CAPN2, Kallikrein 1 (KLK1) and TGFB1 variants and scrapie susceptibility. It has been indicated by several studies on quantitative trait loci (QTLs) in mouse and sheep that scrapie susceptibility is influenced by further gene loci besides the well known effects of prion protein (PrP) gene (PRNP) variants (LLOYD et al 2001, MORENO et al 2008, MORENO et al 2003, STEPHENSON et al 2000)
The results of ARNOLD et al (1995) and SUPATTAPONE et al (1999, 2001) give evidence for a potential involvement of the endosomal cysteine protease cathepsin B (CTSB) in degradation of the abnormal prion protein isoform (PrPSc), which is underlined by the investigations of LUHR et al (2004a, 2004b) who found out that degradation of PrPSc in scrapie infected neurons is carried out by cysteine proteases at a sour pH and that addition of a selective CTSB inhibitor leads to a significant increase of the PrPSc content
Concerning the lysosomal aspartate protease cathepsin D (CTSD), several expression studies reported an elevated concentration of the respective enzyme within the course of scrapie infection in mice (BROWN et al 2004, RIEMER et al 2004, XIANG et al 2004)
Summary
It has been indicated by several studies on quantitative trait loci (QTLs) in mouse and sheep that scrapie susceptibility is influenced by further gene loci besides the well known effects of prion protein (PrP) gene (PRNP) variants (LLOYD et al 2001, MORENO et al 2008, MORENO et al 2003, STEPHENSON et al 2000). Caspari et al.: CTSB, CTSD, CAPN2, KLK1 and TGFB1 variants and scrapie susceptibility
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