First Author | Coppola G | Year | 2006 |
Journal | Neurobiol Dis | Volume | 22 |
Issue | 2 | Pages | 302-11 |
PubMed ID | 16442805 | Mgi Jnum | J:329179 |
Mgi Id | MGI:7341918 | Doi | 10.1016/j.nbd.2005.11.014 |
Citation | Coppola G, et al. (2006) Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration. Neurobiol Dis 22(2):302-11 |
abstractText | Friedreich's ataxia (FRDA) is caused by reduction of frataxin levels to 5-35%. To better understand the biochemical sequelae of frataxin reduction, in absence of the confounding effects of neurodegeneration, we studied the gene expression profile of a mouse model expressing 25-36% of the normal frataxin levels, and not showing a detectable phenotype or neurodegenerative features. Despite having no overt phenotype, a clear microarray gene expression phenotype was observed. This phenotype followed the known regional susceptibility in this disease, most changes occurring in the spinal cord. Additionally, gene ontology analysis identified a clear mitochondrial component, consistent with previous findings. We were able to confirm a subset of changes in fibroblast cell lines from patients. The identification of a core set of genes changing early in the FRDA pathogenesis can be a useful tool in both clarifying the disease process and in evaluating new therapeutic strategies. |