Determining malfunction in the neuron or muscle within neuromuscular dysfunction stemming from adenylosuccinate lyase deficiency

Abstract

Adenylosuccinate lyase (ADSL) is a bi-functional biosynthesic enzyme for purine metabolism. The loss of the function in this enzyme causes a rare and often misdiagnosed disorder that ranges in severity. In humans, the severity ranges from fatal to phenotypes such as epilepsy, muscle dysfunction, and autistic like symptoms. Caenorhabditis elegans share the purine metabolic pathway with humans as well as showing a similar neuromuscular phenotype with a dysfunction in ADSL. To determine the question of whether the dysfunction is because of loss in the neuron or the muscle we used transgenic C. elegans with an extra chromosome that reestablishes the ADSL function in either the neuron or the muscle. Aldicarb was used to test the neuron and levamisole was used to test the muscle. The muscular transgenic C. elegans reacted like typical adsl-1 in aldicarb, indicating an issue with the muscle since neural transgenic behaved more like normal. While the results with levamisole were inconclusive and will need to be adjusted in future experiments.

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Hennings