Abstract
Altered metabolism is a rich source of phenotypic diversity throughout nature, and it contributes to a very large number of human disease phenotypes, including cancer and pediatric inborn errors of metabolism (IEMs). In cancer, mutations in oncogenes and tumor suppressors reprogram metabolic preferences in malignant cells so as to enhance their ability to grow and withstand stress within tumors. IEMs constitute the single largest category of human genetic diseases. They are caused by germline defects in genes encoding metabolic enzymes and nutrient transporters, and they result in chronic, sometimes fatal dysfunction of the brain, liver and other organs, usually manifesting first in children. Crucially, in both cancer and IEMs, understanding the underlying metabolic perturbation and its relationship to the phenotype can produce opportunities for therapeutic intervention. Thus, applying modern, comprehensive techniques in metabolic analysis to human subjects could translate into better clinical management of a number of diseases. I will discuss the use of metabolomics (profiling of steady‐state metabolite abundances) and metabolic flux analysis (the use of stable‐isotope tracers to measure flow through metabolic pathways in living tissue) in human subjects with cancer and IEMs to understand the metabolic basis of tissue dysfunction, to identify therapeutic opportunities, and to discover entirely new human disease phenotypes.Support or Funding InformationHoward Hughes Medical Institute (Faculty Scholars Program), National Cancer Institute, Robert L. Moody Faculty ScholarThis abstract is from the Experimental Biology 2018 Meeting. There is no full text article associated with this abstract published in The FASEB Journal.
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