Mia Peifer
Adenylosuccinate Lyase Deficiency (ASLD), an inborn error of purine metabolism, is caused by a deficiency in adenylosuccinate lyase activity which results in symptoms affecting the muscles and nervous system. The molecular mechanisms behind these symptoms are still unknown. Using a Caenorhabditis elegans model lacking adsl-1 activity, we characterized a swimming phenotype that responds positively to dopamine supplementation. These results suggest dopamine may alleviate some of the phenotypes associated with an ADSL deficiency.