C. Elegans as a Model for Purine Metabolism Disorders

Purine metabolism disorders are genetic disorders that cause severe neurological symptoms. These disorders arise from mutations in DNA that encode specific enzymes responsible for creating intermediates of the purine metabolism pathway. Deficiencies or mutations in these enzymes cause a build-up of intermediates which express neurological phenotypes observed in affected individuals. We want to use the model system Caenorhabditis elegans, to further investigate the role these specific enzymes play in neurological health.