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Human Molecular Genetics Advance Access published online on August 18, 2004
Human Molecular Genetics, doi:10.1093/hmg/ddh268
© 2004 by Oxford University Press
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Article

Gene profiling links SCA1 pathophysiology to glutamate signaling in Purkinje cells of transgenic mice

Heliane G. Serra 1, Courtney E. Byam 1, Jeffrey D. Lande 2, Susan K. Tousey 1, Huda Y. Zoghbi 3, Harry T. Orr 1*

1 Department of Laboratory Medicine and Pathology, and Institute of Human Genetics, University of Minnesota, Mayo Mail Code 206, Minneapolis, Minnesota 55455
2 Institute of Human Genetics, University of Minnesota, Mayo Mail Code 206, Minneapolis, Minnesota 55455
3 Department of Molecular and Human Genetics, and Howard Hughes Medical Institute, Baylor College of Medicine, One Baylor Plaza, Houston, Texas 77030

* To whom correspondence should be addressed. E-mail: harry{at}lenti.med.umn.edu.


  Abstract

Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by the expansion of a polyglutamine repeat within the disease protein, ataxin 1. To elucidate cellular pathways involved in SCA1, we used DNA microarrays to determine the pattern of gene expression in SCA1 transgenic mice at two specific times in the disease process; five weeks, a timepoint prior to onset of pathology, and 12 weeks, at the midpoint of the disease progression. Taking advantage of the availability of three SCA1 transgenic mouse lines, each expressing a different form of ataxin-1, we utilized a strategy that resulted in the identification of a limited number of genes with an altered pattern of expression specific to the development of disease. By comparing the pattern of gene expression in the SCA1 ataxic B05-ataxin-1[82Q] transgenic mouse line with those seen in two non-ataxic lines, A02-ataxin-1[30Q] and K772T-[82Q], 9 genes were identified whose expression was consistently altered in the cerebellum of B05[82Q] mice at five-weeks and twelve-weeks of age. Interestingly, five of the genes in this group form a biological cohort centered on glutamate signaling pathways in Purkinje cells.


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