The PrP genotypes associated with natural scrapie in Ireland were determined and a comparison was made between genotypes found in scrapie-infected sheep and those found in healthy animals from scrapie-infected flocks. Seven PrP genotypes were identified in scrapie-infected animals: VV(136)RR(154)QQ(171),VA(136)RR(154)QQ(171),VA(136)RR(154)QR(171),VA(136)RR(154)QH(171),AA(136)RR(154)QQ(171),AA(136)RR(154)QH(171) and AA(136)RR(154)HH(171). Of 11 scrapie-infected flocks, 15 genotypes were identified in the healthy flock-mates. The genotypes identified in scrapie-affected animals were also all identified in healthy flock-mates. In 9 of the 11 flocks studied, the genotype frequencies among scrapie-infected animals were significantly different from those among healthy flock-mates. The results show that there is a significant risk of developing the clinical signs of scrapie associated with particular PrP genotypes in the Irish sheep population. The association between the V(136)R(154)Q(171) allele and scrapie was evident, as was the association between A(136)R(154)R(171) and resistance to developing the clinical signs of scrapie. The presence of the A(136)H(154)Q(171) allele in the flocks examined resulted in a decreased risk of developing scrapie compared to the presence of the A(136)R(154)Q(171).
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http://dx.doi.org/10.1016/s0034-5288(02)00073-5 | DOI Listing |
Pharmacol Res Perspect
February 2025
Department of Clinical Pharmacology, Wroclaw Medical University, Wroclaw, Poland.
The enzyme N-acetyltransferase 2 (NAT2) plays an important role in metabolism and detoxification of xenobiotics, including carcinogens and medications. We aimed to assess the contribution of the NAT2 polymorphism to susceptibility to inflammatory bowel disease (IBD) in the Polish population. The study involved 101 IBD patients and 100 healthy controls.
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December 2024
District Hospital of Orthopaedics and Trauma Surgery, Bytomska 62, 41-940 Piekary Śląskie, Poland.
The gene encodes the α1 chain of type I collagen, and the data reported so far demonstrate that its polymorphic variants may affect biomechanical properties of bones, muscles, and tendons, and contribute to musculoskeletal disorders. Given, however, limited research on these variants in tendon pathology, we analyzed the impact of polymorphisms on the tendinopathy phenotype and the effectiveness of platelet-rich plasma (PRP) treatment for tennis elbow. Pain perception and therapy outcomes were analyzed from baseline, i.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Department of Biochemistry and Medical Genetics, Faculty of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow 18 Str., 40-752 Katowice, Poland.
Platelet-rich plasma (PRP) is an autologous preparation used to accelerate regeneration; however, this form of therapy is not always effective. Vascular endothelial growth factor B (), which affects vessel survival, pathological angiogenesis, and muscle development may differentiate the risk and treatment of lateral elbow tendinopathy (LET). In this study, we analyzed the influence of gene polymorphisms on the effectiveness of LET treatment with PRP.
View Article and Find Full Text PDFAnimals (Basel)
November 2024
Korea Zoonosis Research Institute, Jeonbuk National University, 820-120 Hana-ro, Iksan 54531, Republic of Korea.
Prion diseases are fatal neurodegenerative disorders caused by the misfolding of the normal cellular prion protein (PrP) into its infectious isoform (PrP). Although prion diseases in humans, sheep, goats, and cattle have been extensively studied, feline spongiform encephalopathy (FSE) remains poorly understood. Genetic factors, particularly polymorphisms in the prion protein gene () and protein gene (), have been linked to prion disease susceptibility in various species.
View Article and Find Full Text PDFPrion
December 2024
Department of Biomedical Engineering and Sciences, School of Mechanical and Manufacturing Engineering, National University of Sciences and Technology, Islamabad, Pakistan.
Rapidly progressive dementias (RPDs) are a type of fatal dementias that cause rapid progression of neuronal dysfunction. This study aimed to assess the prevalence of APOE genotypes (ε2, ε3, ε4) and PRNP mutations (E200K, M129V) in the general population of Pakistan because of their association with RPDs, including Rapidly Progressive Alzheimer's Disease (rpAD) and Creutzfeldt-Jakob Disease (CJD). Blood samples ( = 100) were collected from healthy Pakistani population and the stated mutations were assessed using polymerase chain reaction.
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