The proton pump v-atpase is a hub for neural development and synaptic transmission: pathogenic ro...
Vacuolar-type H+-ATPases (v-ATPases) are multimeric protein complexes responsible for acidification of intracellular organelles, such as lysosomes, endosomes, Golgi apparatus and secretory granules. In neurons, v-ATPase subunits are expressed at disproportionately higher level compared to non-neural tissues, possibly reflecting a uniquely high acidification need, higher turnover and additional neuron-specific roles. At the level of synaptic vesicles, v-ATPase is responsible for the establishment of the electrochemical gradient that allows neurotransmitter loading for synaptic transmission.
Through whole exome sequencing, we identified three distinct de novo mutations in the ATP6V1A gene in children with developmental encephalopathy, featuring cognitive impairment and seizures. The aim of the project is to understand the pathophysiological role of v-ATPase components in synaptic formation and function.
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