First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (<i>PRNP</i>) in Cattle
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 rep...
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MDPI AG
2020-06-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/21/12/4246 |
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| author | Sae-Young Won Yong-Chan Kim Byung-Hoon Jeong |
| author_facet | Sae-Young Won Yong-Chan Kim Byung-Hoon Jeong |
| author_sort | Sae-Young Won |
| collection | DOAJ |
| description | 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 (<i>PRNP</i>) has been linked to human prion disease, the somatic mutation of the <i>PRNP</i> gene 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 bovine <i>PRNP</i> gene 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 bovine <i>PRNP</i> gene that are associated with potential BSE progression. |
| first_indexed | 2024-03-10T19:10:42Z |
| format | Article |
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| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-10T19:10:42Z |
| publishDate | 2020-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-fb3366276a464932ac47958707e777da2023-11-20T03:50:23ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672020-06-012112424610.3390/ijms21124246First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (<i>PRNP</i>) in CattleSae-Young Won0Yong-Chan Kim1Byung-Hoon Jeong2Korea Zoonosis Research Institute, Jeonbuk National University, Iksan, Jeonbuk 54531, KoreaKorea Zoonosis Research Institute, Jeonbuk National University, Iksan, Jeonbuk 54531, KoreaKorea Zoonosis Research Institute, Jeonbuk National University, Iksan, Jeonbuk 54531, KoreaBovine 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 (<i>PRNP</i>) has been linked to human prion disease, the somatic mutation of the <i>PRNP</i> gene 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 bovine <i>PRNP</i> gene 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 bovine <i>PRNP</i> gene that are associated with potential BSE progression.https://www.mdpi.com/1422-0067/21/12/4246E211KE200Kbovine spongiform encephalopathyprionsomatic mutationprion protein gene (<i>PRNP</i>) |
| spellingShingle | Sae-Young Won Yong-Chan Kim Byung-Hoon Jeong First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (<i>PRNP</i>) in Cattle International Journal of Molecular Sciences E211K E200K bovine spongiform encephalopathy prion somatic mutation prion protein gene (<i>PRNP</i>) |
| title | First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (<i>PRNP</i>) in Cattle |
| title_full | First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (<i>PRNP</i>) in Cattle |
| title_fullStr | First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (<i>PRNP</i>) in Cattle |
| title_full_unstemmed | First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (<i>PRNP</i>) in Cattle |
| title_short | First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (<i>PRNP</i>) in Cattle |
| title_sort | first report of the potential bovine spongiform encephalopathy bse related somatic mutation e211k of the prion protein gene i prnp i in cattle |
| topic | E211K E200K bovine spongiform encephalopathy prion somatic mutation prion protein gene (<i>PRNP</i>) |
| url | https://www.mdpi.com/1422-0067/21/12/4246 |
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