Document Detail

Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.
MedLine Citation:
PMID:  20097706     Owner:  NLM     Status:  MEDLINE    
CONTEXT: Human lipodystrophies are characterized by loss of adipose tissue, insulin resistance, and metabolic complications. The mechanisms linking fat loss to severe insulin resistance remain unclear. Adipokines may have important roles as intermediary players in metabolism.
OBJECTIVE: We sought to determine the plasma concentrations of leptin and adiponectin in patients with Berardinelli-Seip congenital lipodystrophy (BSCL) harboring mutations in the genes encoding either 1-acylglycerol-3-phosphate-O-acyltransferase-2 (AGPAT2) or BSCL2/seipin, in comparison with patients with other forms of inherited or acquired lipodystrophies or insulin receptor alterations.
DESIGN: Leptin and total and high-molecular-weight adiponectin were measured in plasma of 16 BSCL1/AGPAT2 and 19 BSCL2/seipin patients and compared with heterozygous (n = 22) or nonmutated relatives (controls, n = 30); patients with Dunnigan-type partial lipodystrophy due to lamin A/C mutations (n = 23), HIV-related lipodystrophy (n = 124), and insulin receptor dysfunctions caused by mutations or autoantibodies (n = 17).
RESULTS: Leptin was dramatically decreased in BSCL patients as compared with other subgroups. Adiponectin was decreased in BSCL as compared with controls and patients with altered insulin receptor but was discrepant between the two BSCL subgroups. Whereas total and high-molecular-weight adiponectin levels were almost undetectable in BSCL1/AGPAT2 patients, higher levels were detected in BSCL2/seipin patients, comparable with those of patients with partial lipodystrophy. Adiponectin greater than 1.6 mg/liter had a 100% negative predictive value for AGPAT2 mutations in inherited lipodystrophies.
CONCLUSIONS: The presence of circulating adiponectin in BSCL2/seipin patients with near absence of adipose tissue outlines the complexity of adiponectin biology. Use of circulating adiponectin might be helpful to guide the genetic investigations in BSCL.
Barbara Antuna-Puente; Emilie Boutet; Corinne Vigouroux; Olivier Lascols; Laurence Slama; Martine Caron-Debarle; Eliane Khallouf; Claire Lévy-Marchal; Jacqueline Capeau; Jean-Philippe Bastard; Jocelyne Magré
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Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2010-01-22
Journal Detail:
Title:  The Journal of clinical endocrinology and metabolism     Volume:  95     ISSN:  1945-7197     ISO Abbreviation:  J. Clin. Endocrinol. Metab.     Publication Date:  2010 Mar 
Date Detail:
Created Date:  2010-03-05     Completed Date:  2010-03-31     Revised Date:  2014-07-30    
Medline Journal Info:
Nlm Unique ID:  0375362     Medline TA:  J Clin Endocrinol Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1463-8     Citation Subset:  AIM; IM    
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MeSH Terms
1-Acylglycerol-3-Phosphate O-Acyltransferase / deficiency*
Adiponectin / blood*
Analysis of Variance
Child, Preschool
Enzyme-Linked Immunosorbent Assay
GTP-Binding Protein gamma Subunits / deficiency*
Leptin / blood
Lipodystrophy, Congenital Generalized / blood*,  genetics
Statistics, Nonparametric
Reg. No./Substance:
0/Adiponectin; 0/BSCL2 protein, human; 0/GTP-Binding Protein gamma Subunits; 0/Leptin; EC O-Acyltransferase

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

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