Irisin levels in LMNA-associated partial lipodystrophies

Diabetes Metab. 2019 Jan;45(1):67-75. doi: 10.1016/j.diabet.2018.08.003. Epub 2018 Aug 27.

Abstract

Aim: The adipo-myokine irisin regulates energy expenditure and fat metabolism. LMNA-associated familial partial lipodystrophy (FPLD2) comprises insulin resistance, muscle hypertrophy and lipoatrophy. The aim of this study was to investigate whether irisin could be a biomarker of FPLD2.

Patients and methods: This case control study included 19 FPLD2 subjects, 13 obese non-diabetic (OND) patients and 19 healthy controls (HC) of normal weight (median BMI: 26, 39 and 22 kg/m2, respectively). Serum irisin and leptin levels, body composition (DXA/MRI) and metabolic/inflammatory parameters were compared in these three groups.

Results: BMI and MRI intra-abdominal fat significantly differed among these three groups, whereas DXA total fat mass and leptin levels were higher in the OND group, but did not differ between HC and FPLD2. Lipodystrophy patients had higher intra-abdominal/total abdominal fat ratios than the other two groups. Irisin levels were higher in FPLD2 and OND patients than in HC (medians: 944, 934 and 804 ng/mL, respectively). However, irisin/leptin ratios and lean body mass percentages were strikingly higher, and lean mass indices lower, in FPLD2 and HC than in the OND (median irisin/leptin ratios: 137, 166 and 21, respectively). In the entire study group, irisin levels positively correlated with BMI, lean body mass and index, intra-abdominal/total abdominal fat ratio, triglyceride, cholesterol, insulin, glucose and HbA1c levels. Also, intra-abdominal/total abdominal fat ratio and lean body mass better differentiated the three groups only in female patients.

Conclusion: Circulating irisin is similarly increased in FPLD2 and OND patients, who are characterized by higher lean body mass regardless of their clearly different fat mass. However, irisin/leptin ratios, strikingly higher in FPLD2 than in OND patients, could help to make the diagnosis and prompt genetic testing in clinically atypical cases.

Keywords: Fat mass; Irisin; Lamin A; Lean mass; Leptin; Lipodystrophy.

MeSH terms

  • Absorptiometry, Photon
  • Adult
  • Blood Glucose
  • Body Composition / physiology
  • Body Mass Index
  • Case-Control Studies
  • Female
  • Fibronectins / blood*
  • Humans
  • Insulin / blood
  • Lamin Type A / genetics*
  • Leptin / blood
  • Lipodystrophy, Familial Partial / blood*
  • Lipodystrophy, Familial Partial / diagnostic imaging
  • Lipodystrophy, Familial Partial / genetics
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Obesity / blood
  • Obesity / diagnostic imaging
  • Triglycerides / blood
  • Young Adult

Substances

  • Blood Glucose
  • FNDC5 protein, human
  • Fibronectins
  • Insulin
  • LMNA protein, human
  • Lamin Type A
  • Leptin
  • Triglycerides