Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1

X Lin, B Antalffy, D Kang, HT Orr, HY Zoghbi - Nature neuroscience, 2000 - nature.com
X Lin, B Antalffy, D Kang, HT Orr, HY Zoghbi
Nature neuroscience, 2000nature.com
The expansion of an unstable CAG repeat causes spinocerebellar ataxia type 1 (SCA1) and
several other neurodegenerative diseases. How polyglutamine expansions render the
resulting proteins toxic to neurons, however, remains elusive. Hypothesizing that long
polyglutamine tracts alter gene expression, we found certain neuronal genes involved in
signal transduction and calcium homeostasis sequentially downregulated in SCA1 mice.
These genes were abundant in Purkinje cells, the primary site of SCA1 pathogenesis; …
Abstract
The expansion of an unstable CAG repeat causes spinocerebellar ataxia type 1 (SCA1) and several other neurodegenerative diseases. How polyglutamine expansions render the resulting proteins toxic to neurons, however, remains elusive. Hypothesizing that long polyglutamine tracts alter gene expression, we found certain neuronal genes involved in signal transduction and calcium homeostasis sequentially downregulated in SCA1 mice. These genes were abundant in Purkinje cells, the primary site of SCA1 pathogenesis; moreover, their downregulation was mediated by expanded ataxin-1 and occured before detectable pathology. Similar downregulation occurred in SCA1 human tissues. Altered gene expression may be the earliest mediator of polyglutamine toxicity.
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