We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Pathogenesis of the metabolic syndrome: insights from monogenic disorders.
- Authors
Murphy, Rinki; Carroll, Richard W; Krebs, Jeremy D
- Abstract
Identifying rare human metabolic disorders that result from a single-gene defect has not only enabled improved diagnostic and clinical management of such patients, but also has resulted in key biological insights into the pathophysiology of the increasingly prevalent metabolic syndrome. Insulin resistance and type 2 diabetes are linked to obesity and driven by excess caloric intake and reduced physical activity. However, key events in the causation of the metabolic syndrome are difficult to disentangle from compensatory effects and epiphenomena. This review provides an overview of three types of human monogenic disorders that result in (1) severe, non-syndromic obesity, (2) pancreatic beta cell forms of early-onset diabetes, and (3) severe insulin resistance. In these patients with single-gene defects causing their exaggerated metabolic disorder, the primary defect is known. The lessons they provide for current understanding of the molecular pathogenesis of the common metabolic syndrome are highlighted.
- Publication
Mediators of inflammation, 2013, Vol 2013, p920214
- ISSN
1466-1861
- Publication type
Journal Article
- DOI
10.1155/2013/920214