Journal
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Volume 21, Issue 12, Pages -Publisher
MDPI
DOI: 10.3390/ijms21124246
Keywords
E211K; E200K; bovine spongiform encephalopathy; prion; somatic mutation; prion protein gene (PRNP)
Funding
- Basic Science Program through the National Research Foundation (NRF) of Korea - Ministry of Education, Science, and Technology [2018R1D1A1B07048711]
- Basic Science Research Program through the National Research Foundation (NRF) of Korea - Ministry of Education [2017R1A6A1A03015876]
- NRF (National Research Foundation of Korea) - Korean Government (NRF-2019-Fostering Core Leaders of the Future Basic Science Program/Global Ph.D. Fellowship Program)
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Bovine spongiform encephalopathy (BSE) is a prion disease characterized by spongiform degeneration and astrocytosis in the brain. Unlike classical BSE, which is caused by prion-disease-contaminated meat and bone meal, the cause of atypical BSE has not been determined. Since previous studies have reported that the somatic mutation in the human prion protein gene (PRNP) has been linked to human prion disease, the somatic mutation of thePRNPgene was presumed to be one cause of prion disease. However, to the best of our knowledge, the somatic mutation of this gene in cattle has not been investigated to date. We investigated somatic mutations in a total of 58 samples, including peripheral blood; brain tissue including the medulla oblongata, cerebellum, cortex, and thalamus; and skin tissue in 20 individuals from each breed using pyrosequencing. In addition, we estimated the deleterious effect of the K211 somatic mutation on bovine prion protein by in silico evaluation tools, including PolyPhen-2 and PANTHER. We found a high rate of K211 somatic mutations of the bovinePRNPgene in the medulla oblongata of three Holsteins (10% +/- 4.4%, 28% +/- 2%, and 19.55% +/- 3.1%). In addition, in silico programs showed that the K211 somatic mutation was damaging. To the best of our knowledge, this study is the first to investigate K211 somatic mutations of the bovinePRNPgene that are associated with potential BSE progression.
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