Korea Zoonosis Research Institute, Jeonbuk National University, Iksan 54531, Jeonbuk, Korea.
Department of Bioactive Material Sciences, Institute for Molecular Biology and Genetics, Jeonbuk National University, Jeonju 54896, Jeonbuk, Korea.
Medicina (Kaunas). 2022 Jul 18;58(7):947. doi: 10.3390/medicina58070947.
Prion diseases are fatal neurodegenerative disorders caused by the abnormal proteinase K-resistant prion protein (PrP). Since variant Creutzfeldt-Jakob disease (CJD) was first reported in the United Kingdom (UK) in 1996, the occurrence of variant CJD has been reported in over 10 countries. To date, variant CJD has not been reported in Korea. However, the E211K somatic mutation in the prion protein gene (), which is related to bovine spongiform encephalopathy (BSE), was reported in Korean Holstein cattle, and atypical BSE, which is supposed to be sporadic BSE, has been occurring in many countries, including Japan and the USA. These results suggest that BSE may occur naturally in Korea. Thus, we performed a preemptive PrP test in appendix specimens to diagnose variant CJD in a Korean population In the present study, we investigated CJD-related mutations and polymorphisms of the gene and carried out an examination on PrP in appendix specimens of Korean patients after appendectomy. In all Korean appendix specimens tested, PrP bands were not detected. To the best of our knowledge, this was the first evaluation of PrP in Korean appendix specimens.
朊病毒病是由异常的蛋白水解酶抗性朊病毒蛋白（PrP）引起的致命神经退行性疾病。自 1996 年英国首次报告变异型克雅氏病（vCJD）以来，已有 10 多个国家报告了变异型 CJD 的发生。迄今为止，韩国尚未报告变异型 CJD。然而，在韩国荷斯坦奶牛中报告了朊病毒蛋白基因（PRNP）中的 E211K 体细胞突变，与牛海绵状脑病（BSE）有关，在包括日本和美国在内的许多国家也发生了所谓的散发性 BSE 的非典型 BSE。这些结果表明 BSE 可能在韩国自然发生。因此，我们在阑尾标本中进行了朊病毒病的抢先 PrP 检测，以诊断韩国人群中的变异型 CJD。 在本研究中，我们调查了与 CJD 相关的 PRNP 基因突变和多态性，并对韩国患者阑尾切除术后的阑尾标本中的 PrP 进行了检查。 在所有测试的韩国阑尾标本中，均未检测到 PrP 带。 据我们所知，这是首次对韩国阑尾标本中的 PrP 进行评估。
