Euploidy in somatic cells from R6/2 transgenic Huntington's disease mice

• Main Authors: Stewénius Ylva, Petersén Åsa, Björkqvist Maria, Gisselsson David
• Format: Article
• Language: English
• Published: BMC 2005-09-01
• Series: BMC Cell Biology
• Online Access: http://www.biomedcentral.com/1471-2121/6/34

<p>Abstract</p> <p>Background</p> <p>Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by a CAG repeat expansion in the <it>HD </it>gene. The huntingtin protein expressed from <it>HD </it>has an unknown function but is suggested to interact with proteins involved in the cell division machinery. The R6/2 transgenic mouse is the most widely used model to study HD. In R6/2 fibroblast cultures, a reduced mitotic index and high frequencies of multiple centrosomes and aneuploid cells have recently been reported. Aneuploidy is normally a feature closely connected to neoplastic disease. To further explore this unexpected aspect of HD, we studied cultures derived from 6- and 12-week-old R6/2 fibroblasts, skeletal muscle cells, and liver cells.</p> <p>Results</p> <p>Cytogenetic analyses revealed a high frequency of polyploid cells in cultures from both R6/2 and wild-type mice with the greatest proportions of polyploid cells in cultures derived from skeletal muscle cells of both genotypes. The presence of polyploid cells in skeletal muscle <it>in vivo </it>was confirmed by fluorescence <it>in situ </it>hybridisation with centromeric probes. Enlarged and supernumerary centrosomes were found in cultures from both R6/2 and wild-type mice. However, no aneuploid cells could be found in any of the tissues.</p> <p>Conclusion</p> <p>We conclude that polyploid cells are found in fibroblast and skeletal muscle cultures derived from both R6/2 and wild-type littermate mice and that aneuploidy is unlikely to be a hallmark of HD.</p>