Melinda Jin and Rositsa Tsarnakova
Errors in the purine biosynthesis pathway caused by genetic mutations can affect the expression of enzymes, such as adenylosuccinate lyase (ADSL) and adenylosuccinate synthetase (ADSS). These errors result in rare diseases in humans, presenting a variety of neurological and muscular symptoms. Due to the rarity of these diseases, there is limited research on the exact nature and treatments. We use the model Caenorhabditis elegans to study the progression of phenotypes associated with such deficiencies.