The influence of PRNP polymorphisms on human prion disease susceptibility: an update

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• 作者：Atsushi Kobayashi ; Kenta Teruya ; Yuichi Matsuura ; Tsuyoshi Shirai…
• 关键词：Creutzfeldt–Jakob disease ; Prion ; PRNP ; Polymorphism
• 刊名：Acta Neuropathologica
• 出版年：2015
• 出版时间：August 2015
• 年：2015
• 卷：130
• 期：2
• 页码：159-170
• 全文大小：1,206 KB
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• 作者单位：Atsushi Kobayashi (1) (8)
  Kenta Teruya (2)
  Yuichi Matsuura (3)
  Tsuyoshi Shirai (4)
  Yoshikazu Nakamura (5)
  Masahito Yamada (6)
  Hidehiro Mizusawa (7)
  Shirou Mohri (1)
  Tetsuyuki Kitamoto (1)
  
  1. Department of Neurological Science, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, 980-8575, Japan
  8. Laboratory of Comparative Pathology, Graduate School of Veterinary Medicine, Hokkaido University, Kita 18, Nishi 9, Kita-ku, Sapporo, 060-0818, Japan
  2. Graduate School of Medical Science, Kyoto Prefectural University of Medicine, 13 Taishogun, Nishitakatsukasa-cho, Kita-ku, Kyoto, 603-8334, Japan
  3. Influenza and Prion Disease Research Center, National Institute of Animal Health, Tsukuba, 305-0856, Japan
  4. Department of Computer Bioscience, Nagahama Institute of Bio-Science and Technology, Nagahama, 526-0829, Japan
  5. Department of Public Health, Jichi Medical University, 3311-1 Yakushiji, Shimotsuke, 329-0498, Japan
  6. Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa, 920-8640, Japan
  7. National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawa-higashi-machi, Kodaira, 187-8511, Japan
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Pathology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-0533

文摘

Two normally occurring polymorphisms of the human PRNP gene, methionine (M)/valine (V) at codon 129 and glutamic acid (E)/lysine (K) at codon 219, can affect the susceptibility to prion diseases. It has long been recognized that 129M/M homozygotes are overrepresented in sporadic Creutzfeldt–Jakob disease (CJD) patients and variant CJD patients, whereas 219E/K heterozygotes are absent in sporadic CJD patients. In addition to these pioneering findings, recent progress in experimental transmission studies and worldwide surveillance of prion diseases have identified novel relationships between the PRNP polymorphisms and the prion disease susceptibility. For example, although 219E/K heterozygosity confers resistance against the development of sporadic CJD, this genotype is not entirely protective against acquired forms (iatrogenic CJD and variant CJD) or genetic forms (genetic CJD and Gerstmann–Str?ussler–Scheinker syndrome) of prion diseases. In addition, 129M/V heterozygotes predispose to genetic CJD caused by a pathogenic PRNP mutation at codon 180. These findings show that the effects of the PRNP polymorphisms may be more complicated than previously thought. This review aims to summarize recent advances in our knowledge about the influence of the PRNP polymorphisms on the prion disease susceptibility.