Defects in the mitochondria! oxidative phosphorylation (OXPHOS-) system, the principal circuit for cellular energy production, lead to often fatal, multi-system disorders affecting organs and tissues with a high-energy demand. The EUMITOCOMBAT consortium, consisting of 12 partners, encompassing 21 scientific groups from nine different countries, including the Czech Republic, aims to integrate and extend knowledge on basic aspects of OXPHOS biology and the pathobiological cascades underlying OXPHOS disease manifestation in humans. The EUMITOCOMBAT project will re-inforce Europe as the international leader in the development of treatments capable of combating these disorders. To this end we will: - Integrate clinical and model-system expertise. - Characterize important genes and proteins involved in the formation and regulation of the OXPHOS-system. - Study the network of components involved in cellular energy metabolism by functional genomics. - Develop more efficient genetic and protein (mutation) screening methods. - Evaluate the cellular alterations/adaptations of these defects in specified cells, tissues, models and humans. - Develop methods to target and test therapeutic agents to specific (sub)cellular locations.
Keywords:
inborn errors of energy metabolism orphan disease
|
