Mitochondrial aspartate/glutamate carrier 1 deficiency: pathogenetic mechanisms and mutational analysis

AGC1 deficiency is a novel genetic disease causing severe neurological symptoms that limit muscular development and brain functions. One of the most important clinical data of the disease is the drastic reduction of myelin in brain. We have very recently identified the genetic cause of the disease, which is a mutation in the AGC protein that transports the amino acids aspartate and glutamate in neuronal mitochondria. Since no treatment has yet been found for this disease, it is crucial to shed light on the mechanisms that prevent the normal formation of myelin in brain when the activity of this protein is impaired. This understanding may provide new therapeutic approaches for alleviating or treating the symptoms of the disease. Through our research we intend to identify new patients and investigate the basic molecular mechanisms of AGC1 deficiency, by studying the function of the disease-causing mutated protein in vitro or in living cells.