Topic: mitochondrial pyruvate carrier

The balance between the quiescent and activated states of adult neural stem/progenitor cells (NSPCs) is crucial for maintaining sustained neurogenesis throughout life. NSPCs mostly remain quiescent during adulthood but can proliferate in response to specific stimuli. While cellular metabolism has emerged as a key factor in determining the activity state of stem cells, its precise role in orchestrating the transition from quiescence to proliferation in NSPCs is not fully understood. Generally, stem cells rely on glycolytic metabolism to support the synthesis of cellular building blocks necessar

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