Mutations of the mitochondrial genome, or in nuclear-encoded mitochondrially-targeted genes, cause mitochondrial disease. Mutations of the mitochondrial genome also occur with aging and could lead to age-related dysfunction. Using cellular and in some cases animal models, we have investigated the molecular, biochemical and cellular consequences of inheritance of pathogenic mitochondrial disease mutations. We have focused intensively on microarray analysis of mitochondrial disease. The most recent application of these data is our recent observation that there is a common, cell-type specific ‘signature’ of different mitochondrial diseases, that implicates fatty acid metabolism, steroid-dependent transcription factors, and alterations in vesicular secretion and synaptogenesis as the most important shared consequences of mitochondrial dysfunction. These consequences have the potential to explain the complex neurological and degenerative phenotypes of mitochondrial disease.
1080 Haring Hall
gcortopassi@ucdavis.edu
Lab http://Cortopassilab.ucdavis.edu