Topic: pyruvate

Microglia, the tissue-resident macrophages of the central nervous system, actively participate in brain development by supporting neuronal maturation and refining synaptic connections. These cells are emerging as highly metabolically flexible, able to oxidize a variety of nutrients to meet their energy demand. Accumulating evidence points towards the involvement of metabolism and differential substrates catabolism in the regulation of immune cells. Lactate, which is abundant in the brain and sustains synaptic activity, also dictates responses of peripheral immune cells. However, the physiologi

Pyruvate is an essential metabolite produced by glycolysis in the cytosol and must be transported across the inner mitochondrial membrane into the mitochondrial matrix, where it is oxidized to fuel mitochondrial respiration. Pyruvate import is performed by the mitochondrial pyruvate carrier (MPC), a hetero-oligomeric complex composed by interdependent subunits MPC1 and MPC2. Pathogenic variants in the MPC1 gene disrupt mitochondrial pyruvate uptake and oxidation and cause autosomal-recessive early-onset neurological dysfunction in humans. The present work describes the first pathogenic variant