Thematic review series: Lipid droplet synthesis and metabolism: From yeast to man - Seipin: From human disease to molecular mechanism

Bethany R. Cartwright, Joel M. Goodman

Research output: Contribution to journalReview article

79 Scopus citations

Abstract

The most-severe form of congenital generalized lipodystrophy (CGL) is caused by mutations in BSCL2/seipin. Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum that concentrates at junctions with cytoplasmic lipid droplets (LDs). While null mutations in seipin are responsible for lipodystrophy, dominant mutations cause peripheral neuropathy and other nervous system pathologies. We first review the clinical aspects of CGL and the discovery of the responsible genetic loci. The structure of seipin, its normal isoforms, and mutations found in patients are then presented. While the function of seipin is not clear, seipin gene manipulation in yeast, flies, mice, and human cells has recently yielded a trove of information that suggests roles in lipid metabolism and LD assembly and maintenance. A model is presented that attempts to bridge these new data to understand the role of this fascinating protein.

Original languageEnglish (US)
Pages (from-to)1042-1055
Number of pages14
JournalJournal of lipid research
Volume53
Issue number6
DOIs
StatePublished - Jun 1 2012

Keywords

  • Adipogenesis
  • Berardinelli-Seip congenital lipodystrophy
  • Congenital generalized lipodystrophy
  • Lipid droplet
  • Lipodystrophy

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology
  • Cell Biology

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