Molecular Genetics of Triplet Repeats: Unstable Expansion of Triplet Repeats as a New Mechanism for Neurodegenerative Diseases

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Expansion of trinucleotide repeats has been identified as a common mechanism of hereditary neurodegenerative diseases including spinal and bulbar muscular atrophy (SBMA), Huntington's disease, dentatorubral-pallidoluysian atrophy (DRPLA), Machado-Joseph disease (MJD), fragile X syndrome, myotonic dystrophy and Friedreich's ataxia. These diseases share unique features, which are difficult to explain based on Mendelian inheritance. These unique clinical genetic features include genetic anticipation and a broad spectrum of clinical presentations, which have been shown to be associated with the instability of the trinucleotide repeats. Recent studies suggest that gene products with expanded polyglutamine tracts may be toxic to neuronal cells, and the mechanisms of neurotoxicity should be thoroughly investigated. To develop therapeutic measures, creation of animal models or cell culture systems for the investigation of neurotoxicity will be indispensable.<br>(Internal Medicine 36: 3-8, 1997)

収録刊行物

  • Internal medicine

    Internal medicine 36(1), 3-8, 1997-01-01

    The Japanese Society of Internal Medicine

参考文献:  36件中 1-36件 を表示

被引用文献:  1件中 1-1件 を表示

各種コード

  • NII論文ID(NAID)
    10008547940
  • NII書誌ID(NCID)
    AA10827774
  • 本文言語コード
    ENG
  • 資料種別
    REV
  • ISSN
    09182918
  • NDL 記事登録ID
    4153801
  • NDL 雑誌分類
    ZS21(科学技術--医学--内科学)
  • NDL 請求記号
    Z53-M398
  • データ提供元
    CJP書誌  CJP引用  NDL  J-STAGE 
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