title: Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale, Unité 938, University Pierre and Marie Curie, Faculté de Médecine Pierre et Marie Curie, Site Saint-Antoine, 27 Rue Chaligny, 75012 Paris France.
authors.forename: Barbara
authors.initials: B
authors.lastname: Antuna-Puente
authors.forename: Emilie
authors.initials: E
authors.lastname: Boutet
authors.forename: Corinne
authors.initials: C
authors.lastname: Vigouroux
authors.forename: Olivier
authors.initials: O
authors.lastname: Lascols
authors.forename: Laurence
authors.initials: L
authors.lastname: Slama
authors.forename: Martine
authors.initials: M
authors.lastname: Caron-Debarle
authors.forename: Eliane
authors.initials: E
authors.lastname: Khallouf
authors.forename: Claire
authors.initials: C
authors.lastname: Lévy-Marchal
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Capeau
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Bastard
authors.forename: Jocelyne
authors.initials: J
authors.lastname: Magré
mesh_terms: D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase / Q000172:deficiency*; D052242:Adiponectin / Q000097:blood*; D000293:Adolescent; D000704:Analysis of Variance; D002648:Child; D002675:Child, Preschool; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D044388:GTP-Binding Protein gamma Subunits / Q000172:deficiency*; D006801:Humans; D020738:Leptin / Q000097:blood; D052497:Lipodystrophy, Congenital Generalized / Q000097:blood* / Q000235:genetics; D008297:Male; D018709:Statistics, Nonparametric
chemical_list: D052242:Adiponectin; C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits; D020738:Leptin; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase