Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation.

ABSTRACT: Calcium dynamics control synaptic transmission. Calcium triggers synaptic vesicle fusion, determines release probability, modulates vesicle recycling, participates in long-term plasticity and regulates cellular metabolism. Mitochondria, the main source of cellular energy, serve as calcium signaling hubs. Mitochondrial calcium transients are primarily determined by the balance between calcium influx, mediated by the mitochondrial calcium uniporter (MCU), and calcium efflux through the sodium/lithium/calcium exchanger (NCLX). We identified a human recessive missense SLC8B1 variant that impairs NCLX activity and is associated with severe mental retardation. On this basis, we examined the effect of deleting NCLX in mice on mitochondrial and synaptic calcium homeostasis, synaptic activity, and

SUBMITTER: Stavsky A 

PROVIDER: S-EPMC8172942 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature