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Testicular degeneration in Huntington disease

Van Raamsdonk, Jeremy M.; Murphy, Zoe; Selva, David M.; Hamidizadeh, Reza; Pearson, Jacqueline; Petersén, Åsa LU ; Björkqvist, Maria LU ; Muir, Cameron; Mackenzie, Ian R. and Hammond, Geoffrey L., et al. (2007) In Neurobiology of Disease 26(3). p.512-520
Abstract
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... (More)
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. (Less)
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publication status
published
subject
keywords
YAC128 mouse model, testosterone, axis, hypothalamic-pituitary-gonadal, testis, Huntington disease, Huntingtin, testicular degeneration
in
Neurobiology of Disease
volume
26
issue
3
pages
512 - 520
publisher
Elsevier
external identifiers
  • wos:000247146400002
  • scopus:34248531227
ISSN
0969-9961
DOI
10.1016/j.nbd.2007.01.006
language
English
LU publication?
yes
id
7e267ddc-3405-4ca2-b57c-0dc6947d9ec1 (old id 650702)
date added to LUP
2007-12-20 12:39:48
date last changed
2017-08-20 03:41:26
@article{7e267ddc-3405-4ca2-b57c-0dc6947d9ec1,
  abstract     = {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.},
  author       = {Van Raamsdonk, Jeremy M. and Murphy, Zoe and Selva, David M. and Hamidizadeh, Reza and Pearson, Jacqueline and Petersén, Åsa and Björkqvist, Maria and Muir, Cameron and Mackenzie, Ian R. and Hammond, Geoffrey L. and Vogl, A. Wayne and Hayden, Michael R. and Leavitt, Blair R.},
  issn         = {0969-9961},
  keyword      = {YAC128 mouse model,testosterone,axis,hypothalamic-pituitary-gonadal,testis,Huntington disease,Huntingtin,testicular degeneration},
  language     = {eng},
  number       = {3},
  pages        = {512--520},
  publisher    = {Elsevier},
  series       = {Neurobiology of Disease},
  title        = {Testicular degeneration in Huntington disease},
  url          = {http://dx.doi.org/10.1016/j.nbd.2007.01.006},
  volume       = {26},
  year         = {2007},
}