Testicular degeneration in Huntington disease

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.

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Neurovetenskaper hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Neurosciences hsv//eng
YAC128 mouse model
testosterone
axis
hypothalamic-pituitary-gonadal
testis
Huntington disease
Huntingtin
testicular degeneration

Murphy, Zoe (author)
Selva, David M. (author)
Hamidizadeh, Reza (author)
Pearson, Jacqueline (author)
Petersén, ÅsaLund University,Lunds universitet,Translationell neuroendokrinologi,Forskargrupper vid Lunds universitet,Translational Neuroendocrinology,Lund University Research Groups(Swepub:lu)mphy-apn (author)
Björkqvist, MariaLund University,Lunds universitet,Institutionen för experimentell medicinsk vetenskap,Medicinska fakulteten,Biomarkörer vid hjärnsjukdomar,Forskargrupper vid Lunds universitet,Translationell neuroendokrinologi,Department of Experimental Medical Science,Faculty of Medicine,Biomarkers in Brain Disease,Lund University Research Groups,Translational Neuroendocrinology(Swepub:lu)farm-mbj (author)
Muir, Cameron (author)
Mackenzie, Ian R. (author)
Hammond, Geoffrey L. (author)
Vogl, A. Wayne (author)
Hayden, Michael R. (author)
Leavitt, Blair R. (author)
Translationell neuroendokrinologiForskargrupper vid Lunds universitet (creator_code:org_t)

By the author/editor: Van Raamsdonk, J ...; Murphy, Zoe; Selva, David M.; Hamidizadeh, Rez ...; Pearson, Jacquel ...; Petersén, Åsa; show more...; Björkqvist, Mari ...; Muir, Cameron; Mackenzie, Ian R ...; Hammond, Geoffre ...; Vogl, A. Wayne; Hayden, Michael ...; Leavitt, Blair R ...; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Neurosciences

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