Document Detail

Genetic basis of lipodystrophies and management of metabolic complications.
MedLine Citation:
PMID:  16409151     Owner:  NLM     Status:  MEDLINE    
Selective loss of body fat is the hallmark of patients with lipodystrophies. Among genetic lipodystrophies, fat loss is observed either from birth, as in congenital generalized lipodystrophy, or later in life, as in familial partial lipodystrophy. The extent of fat loss also varies among subtypes of lipodystrophies. Patients develop hyperinsulinemia, acanthosis nigricans, hypertriglyceridemia, diabetes mellitus, and hepatic steatosis. Defects in several genes, such as those encoding an enzyme (AGPAT2), a nuclear receptor (PPARgamma), a nuclear lamina protein (LMNA) and its processing endoprotease (ZMPSTE24), a kinase (AKT2), and a protein of unknown function (BSCL2), have been found in patients with genetic lipodystrophies. Additional loci remain to be discovered. We discuss features of autosomal recessive and dominant types of lipodystrophies and therapeutic interventions available for these patients.
Anil K Agarwal; Abhimanyu Garg
Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Annual review of medicine     Volume:  57     ISSN:  0066-4219     ISO Abbreviation:  Annu. Rev. Med.     Publication Date:  2006  
Date Detail:
Created Date:  2006-01-13     Completed Date:  2006-05-04     Revised Date:  2012-06-22    
Medline Journal Info:
Nlm Unique ID:  2985151R     Medline TA:  Annu Rev Med     Country:  United States    
Other Details:
Languages:  eng     Pagination:  297-311     Citation Subset:  IM    
Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, The University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390-9052, USA.
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MeSH Terms
1-Acylglycerol-3-Phosphate O-Acyltransferase / genetics
GTP-Binding Protein gamma Subunits / genetics
Lamin Type A / genetics
Lipodystrophy / complications,  genetics*,  therapy*
Lipoproteins / genetics
Membrane Proteins / genetics
Metalloproteases / genetics
PPAR gamma / genetics
Proto-Oncogene Proteins c-akt / genetics
Grant Support
Reg. No./Substance:
0/BSCL2 protein, human; 0/GTP-Binding Protein gamma Subunits; 0/LMNA protein, human; 0/Lamin Type A; 0/Lipoproteins; 0/Membrane Proteins; 0/PPAR gamma; EC O-Acyltransferase; EC protein, human; EC Proteins c-akt; EC 3.4.-/Metalloproteases; EC 3.4.24.-/Metalloendopeptidases; EC protein, human

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