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Elevated E200K Somatic Mutation of the Prion Protein Gene (PRNP) in the Brain Tissues of Patients with Sporadic Creutzfeldt-Jakob Disease (CJD).
Won, Sae-Young; Kim, Yong-Chan; Jeong, Byung-Hoon.
Afiliación
  • Won SY; Korea Zoonosis Research Institute, Jeonbuk National University, 820-120, Hana-ro, Iksan 54531, Republic of Korea.
  • Kim YC; Department of Bioactive Material Sciences, Institute for Molecular Biology and Genetics, Jeonbuk National University, Jeonju 54896, Republic of Korea.
  • Jeong BH; Department of Biological Sciences, Andong National University, Andong 36729, Republic of Korea.
Int J Mol Sci ; 24(19)2023 Oct 02.
Article en En | MEDLINE | ID: mdl-37834279
Sporadic Creutzfeldt-Jakob disease (CJD) is a major human prion disease worldwide. CJD is a fatal neurodegenerative disease caused by an abnormal prion protein (PrPSc). To date, the exact etiology of sporadic CJD has not been fully elucidated. We investigated the E200K and V203I somatic mutations of the prion protein gene (PRNP) in sporadic CJD patients and matched healthy controls using pyrosequencing. In addition, we estimated the impact of somatic mutations on the human prion protein (PrP) using PolyPhen-2, PANTHER and PROVEAN. Furthermore, we evaluated the 3D structure and electrostatic potential of the human PrP according to somatic mutations using DeepView. The rates of PRNP K200 somatic mutation were significantly increased in the frontal cortex and hippocampus of sporadic CJD patients compared to the matched controls. In addition, the electrostatic potential of the human PrP was significantly changed by the K200 somatic mutation of the PRNP gene. To the best of our knowledge, this is the first report on an association of the PRNP K200 somatic mutation with sporadic CJD.
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Priones / Síndrome de Creutzfeldt-Jakob / Enfermedades Neurodegenerativas Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Priones / Síndrome de Creutzfeldt-Jakob / Enfermedades Neurodegenerativas Límite: Humans Idioma: En Revista: Int J Mol Sci Año: 2023 Tipo del documento: Article