Project Overview

The key aim of the REMIX (REgulation of MItochondrial gene eXpression) Network is to combine the skills of European research groups to provide strategic training of the next generation of scientists through a programme that will progress in the elucidation of the molecular mechanisms and pathways that regulate mitochondrial gene expression.  

Mitochondria are essential organelles found in every eukaryotic cell, required to convert food into usable energy. The mitochondrial oxidative phosphorylation (OXPHOS) system, which produces the majority of cellular energy in the form of ATP, is controlled by two distinct genomes: the nuclear and the mitochondrial genome (mtDNA).  In humans mtDNA encodes only thirteen polypeptides, all essential structural components of OXPHOS complexes. Defects in the synthesis, import, and modification of mitochondrial polypeptides as well as defective assembly of multi-subunit OXPHOS complexes result in mitochondrial diseases that primarily affect tissues with a high metabolic demand, such as the nervous, muscular, cardiac, ocular and endocrine systems. They are very heterogeneous from a clinical, genetical, biochemical and molecular perspective and can affect patients at any age. While the exact numbers of children and adults suffering from mitochondrial disease are hard to determine because of frequent misdiagnosing, we now know that the prevalence of mitochondrial diseases is approaching that of childhood cancers. Furthermore, dysfunction of mitochondrial OXPHOS system has also emerged as a key factor in many “common” diseases, including neurodegenerative and metabolic disorders such as Type 2 Diabetes, Parkinson’s and Alzheimer’s disease, and is linked to ageing process. Despite all this, it is surprising that our understanding of the mechanisms governing the mitochondrial gene expression and its associated pathologies remain superficial and therapeutic interventions largely unexplored. 

REMIX ITN is therefore designed to bring together a multidisciplinary team, which harnesses the different expertise (genetics, molecular and cell biology, biochemistry and structural biology) of researchers across Europe, aimed to elucidate precise molecular mechanisms of mitochondrial gene expression. Thus charting a route for deeper understanding of pathophysiology of mitochondrial diseases leading to their eventual alleviation via effective therapy.