| Lipodystrophy: metabolic insights from a rare disorder. | |
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MedLine Citation:
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PMID: 20870709 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Obesity, insulin resistance and their attendant complications are among the leading causes of morbidity and premature mortality today, yet we are only in the early stages of understanding the molecular pathogenesis of these aberrant phenotypes. A powerful approach has been the study of rare patients with monogenic syndromes that manifest as extreme phenotypes. For example, there are striking similarities between the biochemical and clinical profiles of individuals with excess fat (obesity) and those with an abnormal paucity of fat (lipodystrophy), including severe insulin resistance, dyslipidaemia, hepatic steatosis and features of hyperandrogenism. Rare lipodystrophy patients therefore provide a tractable genetically defined model for the study of a prevalent human disease phenotype. Indeed, as we review herein, detailed study of these syndromes is beginning to yield valuable insights into the molecular genetics underlying different forms of lipodystrophy, the essential components of normal adipose tissue development and the mechanisms by which disturbances in adipose tissue function can lead to almost all the features of the metabolic syndrome. |
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Authors:
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Isabel Huang-Doran; Alison Sleigh; Justin J Rochford; Stephen O'Rahilly; David B Savage |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2010-09-24 |
Journal Detail:
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Title: The Journal of endocrinology Volume: 207 ISSN: 1479-6805 ISO Abbreviation: J. Endocrinol. Publication Date: 2010 Dec |
Date Detail:
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Created Date: 2010-11-15 Completed Date: 2010-12-13 Revised Date: 2012-03-27 |
Medline Journal Info:
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Nlm Unique ID: 0375363 Medline TA: J Endocrinol Country: England |
Other Details:
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Languages: eng Pagination: 245-55 Citation Subset: IM |
Affiliation:
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Metabolic Research Laboratories, Institute of Metabolic Science, Addenbrooke's Hospital, University of Cambridge, Hills Road, Cambridge CB2 0QQ, UK. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adipose Tissue
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metabolism Animals Dyslipidemias / genetics, metabolism* Fatty Liver / genetics, metabolism Female Gene Expression / genetics, physiology Humans Hyperandrogenism / genetics, metabolism Insulin Resistance / genetics, physiology Lipodystrophy / genetics, metabolism*, pathology Male Metabolic Syndrome X / genetics, metabolism, pathology Mice Obesity / genetics, metabolism* |
| Grant Support | |
ID/Acronym/Agency:
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078986/Z/06/Z//Wellcome Trust; 091551//Wellcome Trust; //Medical Research Council |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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