Research article

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

Åsa Petersén^1,3 , Ylva Stewénius² , Maria Björkqvist² and David Gisselsson²

¹Neuronal Survival Unit, Department of Experimental Medical Science, Wallenberg Neuroscience Center, Lund University, Sweden

²Department of Clinical Genetics, University Hospital, Lund, Sweden

³Unit of Molecular Metabolism, Division of Diabetes, Metabolism, and Endocrinology, Department of Experimental Medical Science, Lund University, Sweden

author email corresponding author email

BMC Cell Biology 2005, 6:34doi:10.1186/1471-2121-6-34

Published:	13 September 2005

Abstract

Background

Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by a CAG repeat expansion in the HD gene. The huntingtin protein expressed from HD 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.

Results

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 in vivo was confirmed by fluorescence in situ 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.

Conclusion

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.