Adenlyosuccinate alleviates mobility deficits associated with Adenylosuccinate Synthetase deficiency in Caenorhabditis elegans

ADSSL1-Myopathy is an ultra-rare muscular disorder caused by a mutation in the purine nucleotide cycle (PNC) gene, ADSSL1. ADSSL1-Myopathy had been hard to characterize on a molecular level due to a lack of adequate models for its study. We are investigating the functions of ADSS using C. elegans and are exploring the use of PNC substrates as a potential therapy. We have established movement phenotypes associated with ADSS function that can be rescued by adenylosuccinate.