Lipodystrophies: Disorders of adipose tissue biology

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125 Scopus citations


The adipocytes synthesize and store triglycerides as lipid droplets surrounded by various proteins and phospholipids at its surface. Recently, the molecular basis of some of the genetic syndromes of lipodystrophies has been elucidated and some of these genetic loci have been found to contribute to lipid droplet formation in adipocytes. The two main types of genetic lipodystrophies are congenital generalized lipodystrophy (CGL) and familial partial lipodystrophy (FPL). So far, three CGL loci: 1-acylglycerol-3-phosphate-O-acyltransferase 2 (AGPAT2), Berardinelli-Seip Congenital Lipodystrophy 2 (BSCL2) and caveolin 1 (CAV1) and four FPL loci: lamin A/C (LMNA), peroxisome proliferator-activated receptor γ (PPARG), v-AKT murine thymoma oncogene homolog 2 (AKT2) and zinc metalloprotease (ZMPSTE24), have been identified. AGPAT2 plays a critical role in the synthesis of glycerophospholipids and triglycerides required for lipid droplet formation. Another protein, seipin (encoded by BSCL2 gene), has been found to induce lipid droplet fusion. CAV1 is an integral component of caveolae and might contribute towards lipid droplet formation. PPARγ and AKT2 play important role in adipogenesis and lipid synthesis. In this review, we discuss and speculate about the contribution of various lipodystrophy genes and their products in the lipid droplet formation.

Original languageEnglish (US)
Pages (from-to)507-513
Number of pages7
JournalBiochimica et Biophysica Acta - Molecular and Cell Biology of Lipids
Issue number6
StatePublished - Jun 1 2009


  • AGPAT2
  • AKT2
  • Acyltransferase
  • BSCL2
  • CAV1
  • LMNA
  • Lipid droplet
  • Lipodystrophy
  • ZMPSTE24

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology

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