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

Access this Article

Author(s)

Abstract

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)

Journal

  • Internal Medicine

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

    The Japanese Society of Internal Medicine

References:  36

Cited by:  1

Codes

  • NII Article ID (NAID)
    10008547940
  • NII NACSIS-CAT ID (NCID)
    AA10827774
  • Text Lang
    ENG
  • Article Type
    Journal Article
  • ISSN
    09182918
  • NDL Article ID
    4153801
  • NDL Source Classification
    ZS21(科学技術--医学--内科学)
  • NDL Call No.
    Z53-M398
  • Data Source
    CJP  CJPref  NDL  J-STAGE 
Page Top