PMID- 14516935
OWN - NLM
STAT- MEDLINE
DCOM- 20040709
LR  - 20191026
IS  - 1043-2760 (Print)
IS  - 1043-2760 (Linking)
VI  - 14
IP  - 8
DP  - 2003 Oct
TI  - Monogenic forms of insulin resistance: apertures that expose the common metabolic 
      syndrome.
PG  - 371-7
AB  - Insulin resistance is common and plays a central role in the pathogenesis of type 
      2 diabetes mellitus (T2DM). Precedents in biomedical research indicate that 
      evaluation of monogenic syndromes can help to understand a common complex 
      phenotype. Monogenic forms of insulin resistance, such as familial partial 
      lipodystrophy, which results from mutations in either LMNA (encoding lamin A/C) 
      or PPARG (encoding peroxisome proliferator-activated receptor gamma), and 
      congenital generalized lipodystrophy, which results from mutations in either 
      AGPAT2 (encoding 1-acylglycerol-3-phosphate O-acyltransferase) or BSCL2 (encoding 
      seipin), can display features seen in the common metabolic syndrome. In addition, 
      insulin resistance is seen in disorders associated with insulin receptor 
      mutations, progeria syndromes and in inherited forms of obesity. Although insulin 
      resistance in such rare monogenic syndromes could simply be secondary to fat 
      redistribution and/or central obesity, the products of the causative genes might 
      also produce insulin resistance directly, and might illuminate new causative 
      mechanisms for insulin resistance in such common disorders as T2DM and obesity.
FAU - Hegele, Robert A
AU  - Hegele RA
AD  - Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, 406-100 
      Perth Drive, London, Ontario, N6A5K8, Canada. hegele@robarts.ca
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - United States
TA  - Trends Endocrinol Metab
JT  - Trends in endocrinology and metabolism: TEM
JID - 9001516
RN  - EC 2.7.10.1 (Receptor, Insulin)
SB  - IM
MH  - Humans
MH  - Insulin Resistance/*genetics
MH  - Lipodystrophy/complications/*genetics
MH  - Metabolic Diseases/complications/*genetics
MH  - Metabolic Syndrome/complications/genetics
MH  - Mutation/*genetics
MH  - Obesity/genetics
MH  - Receptor, Insulin/genetics
MH  - Syndrome
RF  - 62
EDAT- 2003/10/01 05:00
MHDA- 2004/07/10 05:00
CRDT- 2003/10/01 05:00
PHST- 2003/10/01 05:00 [pubmed]
PHST- 2004/07/10 05:00 [medline]
PHST- 2003/10/01 05:00 [entrez]
AID - S1043276003001425 [pii]
AID - 10.1016/s1043-2760(03)00142-5 [doi]
PST - ppublish
SO  - Trends Endocrinol Metab. 2003 Oct;14(8):371-7. doi: 
      10.1016/s1043-2760(03)00142-5.