Adipokines and the insulin resistance syndrome in familial partial lipodystrophy caused by a mutation in lamin A/C

Diabetologia. 2005 Dec;48(12):2641-9. doi: 10.1007/s00125-005-0038-x. Epub 2005 Nov 17.


Aims/hypothesis: Familial partial lipodystrophy (FPLD) and obesity are both associated with increased risks of type 2 diabetes and cardiovascular disease. Although adipokines have been implicated, few data exist in subjects with FPLD; therefore we investigated a family with FPLD due to a lamin A/C mutation in order to determine how abnormalities of the plasma adipokine profile relate to insulin resistance and the metabolic syndrome.

Methods: Plasma levels of adiponectin, leptin, resistin, IL-1beta, IL-6 and TNF-alpha in 30 subjects (ten patients, 20 controls) were correlated with indices of metabolic syndrome.

Results: Compared with controls, FPLD patients had significantly lower plasma levels of adiponectin (3.7+/-1.0 in FDLP cases vs 7.1+/-0.72 mug/ml in controls, p=0.02), leptin (1.23+/-0.4 vs 9.0+/-1.3 ng/ml, p=0.002) and IL-6 (0.59+/-0.12 vs 1.04+/-0.17 pg/ml, p=0.047) and elevated TNF-alpha (34.8+/-8.1 vs 13.7+/-2.7 pg/ml, p=0.028), whereas IL-1beta and resistin were unchanged. In both groups, adiponectin levels were inversely correlated with body fat mass (controls, r=-0.44, p=0.036; FDLP, r=-0.67, p=0.025), insulin resistance (controls, r=-0.62, p=0.003; FDLP, r=-0.70, p=0.025) and other features of the metabolic syndrome. TNF-alpha concentrations were positively related to fat mass (controls, r=0.68, p=0.001; FDLP, r=0.64, p=0.048) and insulin resistance (controls, r=0.86, p=0.001; FDLP, r=0.75, p=0.013). IL-6, IL-1beta and resistin did not demonstrate any correlations with the metabolic syndrome in either group.

Conclusions/interpretation: Low adiponectin and leptin and high TNF-alpha were identified as the major plasma adipokine abnormalities in FPLD, consistent with the hypothesis that low adiponectin and high TNF-alpha production may be mechanistically related, and perhaps responsible for the development of insulin resistance and cardiovascular disease in FPLD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adiponectin / blood*
  • Adult
  • Case-Control Studies
  • Diabetes Mellitus, Lipoatrophic / blood
  • Diabetes Mellitus, Lipoatrophic / genetics
  • Diabetes Mellitus, Lipoatrophic / physiopathology*
  • Female
  • Homeostasis
  • Humans
  • Insulin Resistance / physiology*
  • Interleukin-1 / blood
  • Interleukin-6 / blood
  • Laminin / genetics*
  • Laminin / physiology
  • Leptin / blood
  • Male
  • Metabolic Syndrome / blood
  • Metabolic Syndrome / physiopathology
  • Middle Aged
  • Multivariate Analysis
  • Mutation
  • Obesity / blood
  • Obesity / physiopathology
  • Resistin / blood
  • Tumor Necrosis Factor-alpha / analysis*


  • Adiponectin
  • Interleukin-1
  • Interleukin-6
  • Laminin
  • Leptin
  • Resistin
  • Tumor Necrosis Factor-alpha
  • laminin A