Therapeutic efficacy of 3,4-Diaminopyridine phosphate on neuromuscular junction in Pompe disease

3,4-Diaminopyridine (3,4-DAP) and its phosphate form, 3,4-DAPP have been used efficiently in the past years to treat muscular weakness myasthenic syndromes with neuromuscular junctions (NMJs) impairment. Pompe disease (PD), an autosomal recessive metabolic disorder due a defect of lysosomal enzyme α-glucosidase (GAA), presents some secondary symptoms that are related transmission dysfunction, resulting endurance strength failure. In order evaluate whether could beneficial effect on this pathology, we took advantage transient zebrafish PD model previously generated characterized. We investigated presynaptic postsynaptic structures, NMJs at electron microscopy level, behavior, before after treatment 3,4-DAPP. After drug administration, observed increase number acetylcholine receptors increment percentage normal structure amelioration embryo recovery typical movements were lost model. Our results revealed early NMJ impairment improvement administration 3,4-DAPP, suggesting potential use as symptomatic patients disease.