Dopamine Neurons are Not Affected by Expanded Polyglutamine Stretches in HD Gene Knock-In Mice

  • Hiroshi Ishiguro
  • Kouji Yamada
  • Hirohide Sawada
  • Kazuhiro Nishii
  • Makoto Sawada
  • Jun Goto
  • Ichiro Kanazawa
  • Toshiharu Nagatsu
Part of the Advances in Behavioral Biology book series (ABBI, volume 53)

Abstract

Huntington’s Disease (HD) is an autosomal dominant neurodegenerative disorder characterized by involuntary movement, personality change and dementia. The HD gene was identified using gene linkage analysis.1 The HD gene contains a triplet (CAG) repeat expansion (>36 CAG repeats) in exon 1, something that is also a feature of polyglutamine diseases. A clear relation exists between the CAG repeat length of the HD gene and age of disease onset. HD’s pathological abnormalities include loss of medium spiny neurons in the striatum, especially the caudate nucleus and putamen, which can begin at an early stage of the disease. HD model mice, in the form of transgenic (Tg) or gene knock-in animals, have been produced by several groups. Several HD gene knock-in mice were also produced by replacing the mouse exon 1 with mutated forms of the human HD gene exon 1.2–6 In contrast to Tg mice, HD gene knock-in mice showed relatively mild abnormalities, including aggregation in nuclei of neurons, neuronal cell death and abnormal behavior.

Keywords

Neuronal Cell Death Polyglutamine Disease Knockin Mouse Mouse Exon Autosomal Dominant Neurodegenerative Disorder 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media New York 2002

Authors and Affiliations

  • Hiroshi Ishiguro
    • 1
  • Kouji Yamada
    • 1
  • Hirohide Sawada
    • 1
  • Kazuhiro Nishii
    • 1
  • Makoto Sawada
    • 1
  • Jun Goto
    • 2
  • Ichiro Kanazawa
    • 2
  • Toshiharu Nagatsu
    • 1
  1. 1.Institute for Comprehensive Medical ScienceFujita Health UniversityToyoake, AichiJapan
  2. 2.Graduate School of MedicineThe University of TokyoHongo, TokyoJapan

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