par Coppola, Giovanni;Choi, Sang-Hyun;Santos, M M;Miranda, C;Tentler, Dmitri;Wexler, Eric M;Pandolfo, Massimo ;Geschwind, Daniel H
Référence Neurobiology of disease, 22, 2, page (302-311)
Publication Publié, 2006-05
Référence Neurobiology of disease, 22, 2, page (302-311)
Publication Publié, 2006-05
Article révisé par les pairs
Résumé : | 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. |