Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-o-acyltransferase-2 deficiency.
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.
Antuna-Puente
Barbara
B
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.
Boutet
Emilie
E
Vigouroux
Corinne
C
Lascols
Olivier
O
Slama
Laurence
L
Caron-Debarle
Martine
M
Khallouf
Eliane
E
Lévy-Marchal
Claire
C
Capeau
Jacqueline
J
Bastard
Jean-Philippe
JP
Magré
Jocelyne
J
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
D052242:Adiponectin; C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits; D020738:Leptin; D051103:1-Acylglycerol-3-Phosphate O-Acyltransferase