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Testicular degeneration in Huntington disease

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Author

  • Jeremy M. Van Raamsdonk
  • Zoe Murphy
  • David M. Selva
  • Reza Hamidizadeh
  • Jacqueline Pearson
  • Åsa Petersén
  • Maria Björkqvist
  • Cameron Muir
  • Ian R. Mackenzie
  • Geoffrey L. Hammond
  • A. Wayne Vogl
  • Michael R. Hayden
  • Blair R. Leavitt
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Summary, in English

Huntington disease (HD) is an adult onset, neurodegenerative disorder that results from CAG expansion in the HD gene. Recent work has demonstrated testicular degeneration in mouse models of HD and alterations in the hypothalamic-pituitary-gonadal (HPG) axis in HD patients. Here, we show that HD patients have specific testicular pathology with reduced numbers of germ cells and abnormal seminiferous tubule morphology. In the YAC128 mouse model, testicular degeneration develops prior to 12 months of age, but at 12 months, there is no evidence for decreased testosterone levels or loss of GnRH neurons in the hypothalamus. This suggests that testicular pathology results from a direct toxic effect of mutant huntingtin in the testis and is supported by the fact that huntingtin is highly expressed in the affected cell populations in the testis. Understanding the pathogenesis of HD in the testis may reveal common critical pathways which lead to degeneration in both the brain and testis.

Publishing year

2007

Language

English

Pages

512-520

Publication/Series

Neurobiology of Disease

Volume

26

Issue

3

Document type

Journal article

Publisher

Elsevier

Topic

  • Neurosciences

Keywords

  • YAC128 mouse model
  • testosterone
  • axis
  • hypothalamic-pituitary-gonadal
  • testis
  • Huntington disease
  • Huntingtin
  • testicular degeneration

Status

Published

Research group

  • Translational Neuroendocrinology
  • Biomarkers in Brain Disease

ISBN/ISSN/Other

  • ISSN: 0969-9961