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Human Molecular Genetics Advance Access originally published online on August 18, 2004
Human Molecular Genetics 2004 13(20):2535-2543; doi:10.1093/hmg/ddh268
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Human Molecular Genetics, Vol. 13, No. 20 © Oxford University Press 2004; all rights reserved

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

Heliane G. Serra1,2, Courtney E. Byam1,2, Jeffrey D. Lande2, Susan K. Tousey1,2, Huda Y. Zoghbi3 and Harry T. Orr1,2,*

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

Received May 12, 2004; Accepted July 27, 2004

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; 5 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], nine genes were identified whose expression was consistently altered in the cerebellum of B05[82Q] mice at 5 and 12 weeks of age. Interestingly, five of the genes in this group form a biological cohort centered on glutamate signaling pathways in Purkinje cells.

* To whom correspondence should be addressed. Tel: +1 6126253647; Fax: +1 6126267031; Email: harry{at}lenti.med.umn.edu


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