Lesch-Nyhan disease is a rare neurological disorder accompanied by several physical impairments, including gout, spastic movements, an inability to stand or walk, cognitive deficiencies, and self-mutilation urges. It is caused by defects in a single enzyme, HGPRT. Within an organism, HGPRT plays a crucial role in the conversion of pre-existing purines (from food or recycled nucleotides) into nucleotides. To compensate for the HGPRT defect, diseased cells up-regulate a pathway for purine synthesis. To gain insight into the role of this defect in living systems , the yeast version of the HGPRT gene was knocked out. To assess the effect of the knockout at the transcript level, a microanalysis array was perfomed on wild-type and knockout yeast cultures.<br/>Our study investigates the effect of this knockout at the proteome level. This is particularly important as the abundance of DNA and RNA does not always correlate with the abundance of proteins. We are utilizing mass-spectrometry to probe the yeast proteomes. Label-free quantification will be employed to determine any proteome changes resulting from the HGPRT knockout.

Utilization of discovery-based proteomics to study the role of the HGPRT gene in yeast

251st National Meeting (2016)

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