Document Detail

Metabolic insights from extreme human insulin resistance phenotypes.
MedLine Citation:
PMID:  22498245     Owner:  NLM     Status:  MEDLINE    
As well as improving diagnostic and clinical outcomes for affected patients, understanding the genetic basis of rare human metabolic disorders has resulted in several fundamental biological insights. In some cases understanding extreme phenotypes has also informed thinking about more prevalent metabolic diseases. Insulin resistance underpins the twin epidemics of obesity and type 2 diabetes as well as accounting for many of the metabolic problems encompassed by the term metabolic syndrome. This review provides a brief update on current understanding of human severe insulin resistance syndromes, before highlighting recent insights provided by studies in these rare syndromes into the molecular pathogenesis of elements of the metabolic syndrome.
Anna Stears; Stephen O'Rahilly; Robert K Semple; David B Savage
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Best practice & research. Clinical endocrinology & metabolism     Volume:  26     ISSN:  1878-1594     ISO Abbreviation:  Best Pract. Res. Clin. Endocrinol. Metab.     Publication Date:  2012 Apr 
Date Detail:
Created Date:  2012-04-13     Completed Date:  2012-08-06     Revised Date:  2014-02-24    
Medline Journal Info:
Nlm Unique ID:  101120682     Medline TA:  Best Pract Res Clin Endocrinol Metab     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  145-57     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Elsevier Ltd. All rights reserved.
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MeSH Terms
Acanthosis Nigricans / diagnosis
Adiponectin / blood
Diabetes Mellitus, Type 2 / genetics
Dyslipidemias / diagnosis
Fatty Liver
Hyperinsulinism / physiopathology
Hypoglycemia / diagnosis
Insulin Resistance / genetics*
Lipogenesis / physiology
Metabolic Syndrome X / genetics,  metabolism*
Mitochondrial Diseases / genetics,  physiopathology
Obesity / genetics
Phosphatidylinositol 3-Kinase / metabolism
Polycystic Ovary Syndrome / diagnosis
Proto-Oncogene Proteins c-akt / physiology
Receptor, IGF Type 1 / physiology
Signal Transduction / physiology
Grant Support
091551//Wellcome Trust; 095515//Wellcome Trust; //Medical Research Council; //Wellcome Trust
Reg. No./Substance:
0/Adiponectin; EC 3-Kinase; EC, IGF Type 1; EC Proteins c-akt

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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