PMID: 11924926Apr 2, 2002Paper

Monogenic forms of obesity and diabetes mellitus

Journal of Pediatric Endocrinology & Metabolism : JPEM
Constantine TsigosSotirios A Raptis

Abstract

Great progress has been made in identifying several genes and in understanding the molecular pathogenesis of inherited syndromes of obesity and diabetes mellitus (DM). In humans, mutations in leptin, leptin receptor, proopiomelanocortin (POMC), melanocortin-4 receptor (MC4R) and prohormone convertase 1 (PC1) have been described in patients with severe obesity. Most of these obesity disorders, with the exception of the MC4R mutations, exhibit recessive inheritance and a distinct phenotype with varying degrees of hypothalamic dysfunction, and they unravel the critical role of the central leptin and melanocortin pathways in human appetite control and energy homeostasis. Maturity onset diabetes of the young (MODY) is a genetically and clinically heterogeneous subtype of type 2 DM with early onset autosomal dominant inheritance and a primary defect in insulin secretion. To date, six MODY genes have been identified, the glucokinase gene and five beta cell-specific transcription factor genes, hepatocyte nuclear factor-1alpha (HNF-1alpha), HNF-1beta, HNF-4alpha, insulin promoter factor-1 (IPF-1) and NeuroD1/BETA2. Mitochondrial DNA mutations cause another form of DM with an insulin secretory defect that is commonly associated with neur...Continue Reading

References

Dec 24, 1992·Cell·S J BultmanR P Woychik
Dec 1, 1994·Trends in Genetics : TIG·L D Siracusa
Feb 15, 1996·Nature·G H LeeJ M Friedman
May 1, 1996·Nature Genetics·M S PhillipsJ F Hess
Nov 5, 1997·Nature Genetics·D A StoffersJ F Habener
Nov 14, 1997·Nature Genetics·M GrahamK L Stark
Dec 6, 1997·Nature·R J SeeleyM W Schwartz
Dec 6, 1997·Nature·S NatesanM Gilman
Mar 10, 1998·Cell·J S Flier, E Maratos-Flier
Mar 21, 1998·Nature Genetics·A StrobelA D Strosberg
Apr 16, 1998·European Journal of Endocrinology·G Velho, P Froguel
Jun 20, 1998·Science·S C WoodsM W Schwartz
Oct 31, 1998·Nature·J M Friedman, J L Halaas
Jul 7, 1999·The Journal of Clinical Investigation·H A Chapman
Jul 7, 1999·The Journal of Clinical Investigation·B R Stevenson
Nov 28, 2000·Annual Review of Genetics·S W RobinsonR D Cone

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Citations

Sep 17, 2013·Cell Metabolism·Adrian Kee Keong TeoRohit N Kulkarni
Feb 7, 2017·International Journal of Obesity : Journal of the International Association for the Study of Obesity·N Dhanda, S Taheri
May 9, 2006·Biological Reviews of the Cambridge Philosophical Society·Jonathan C K Wells
Jan 11, 2007·American Journal of Physiology. Endocrinology and Metabolism·Manikkavasagar ThamotharanSherin U Devaskar

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