title: Metabolic dysregulation in monogenic disorders and cancer - finding method in madness.
abstract: Cancer is a prime example of a disease process in which carcinogenic and metabolic changes are intertwined to promote cell survival and growth. One approach to unravel this complex relationship is by studying rare, monogenic disorders caused by mutations in genes encoding metabolic enzymes or regulators. There are hundreds of these diseases, most of which manifest in childhood and are collectively termed 'inborn errors of metabolism' (IEMs). Several IEMs demonstrate the consequences of chronic, systemic loss of a particular metabolic activity that can result in malignancy. In this Opinion article, we present a conceptual categorization of IEMs associated with cancer and discuss how assessment of these rare diseases might inform us about the biological foundations of common types of cancer and opportunities for cancer diagnosis and therapy.
authors.affiliation: Weizmann Institute of Science, Rehovot, Israel 76100.
authors.forename: Ayelet
authors.initials: A
authors.lastname: Erez
authors.affiliation: Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Room NL12.138B, Dallas, Texas 75390-8502, USA.
authors.forename: Ralph J
authors.initials: RJ
authors.lastname: DeBerardinis
mesh_terms: D000818:Animals; D006019:Glycolysis; D006801:Humans; D007521:Isocitrate Dehydrogenase / Q000502:physiology; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000378:metabolism; D009369:Neoplasms / Q000209:etiology* / Q000378:metabolism; D050543:Phosphoglycerate Dehydrogenase / Q000502:physiology
chemical_list: C538784:IDH2 protein, human; D007521:Isocitrate Dehydrogenase; C543588:IDH1 protein, human; D050543:Phosphoglycerate Dehydrogenase