Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration

Giovanni Coppola, Sang Hyun Choi, Manuela M. Santos, Carlos J. Miranda, Dmitri Tentler, Eric M. Wexler, Massimo Pandolfo, Daniel H. Geschwind

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46 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)302-311
Number of pages10
JournalNeurobiology of Disease
Issue number2
Publication statusPublished - 2006 May 1



  • Frataxin
  • Friedreich's ataxia
  • Knockin/knockout
  • Microarray
  • Mouse model
  • Neurodegeneration

ASJC Scopus subject areas

  • Neurology

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