Phenomics, lipodystrophy, and the metabolic syndrome.
The metabolic syndrome (MetS) is a common multiplex cluster of phenotypes strongly related to cardiovascular disease that includes central obesity with hypertension, dyslipidemia, and type 2 diabetes. The core molecular defect of the MetS is insulin resistance; indeed, the terms "MetS" and "insulin resistance syndrome" often are used interchangeably. The successful translation to clinical medicine of molecular genetic research on other rare monogenic metabolic disorders has stimulated the evaluation of such rare monogenic forms of insulin resistance as partial lipodystrophy resulting from mutations in either LMNA or PPARG genes. Careful phenotypic evaluation of carriers of monogenic insulin resistance using a range of diagnostic methods--an approach sometimes called "phenomics"--may help to find early presymptomatic biomarkers of cardiovascular disease, which, in turn, may uncover new pathways and targets for interventions for the common MetS, diabetes, and atherosclerosis.
Hegele
Robert A
RA
Robarts Research Institute, 406-100 Perth Drive, London, Ontario N6A 5K8, Canada. hegele@robarts.ca
D005819:Genetic Markers; D006801:Humans; D007333:Insulin Resistance / Q000235:genetics; D034904:Lamin Type A / Q000235:genetics; D008060:Lipodystrophy / Q000175:diagnosis / Q000235:genetics*; D024821:Metabolic Syndrome / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
D005819:Genetic Markers; D034904:Lamin Type A; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors