School of Biotechnology and Biomolecular Sciences, The University of New South Wales, Sydney, NSW 2052, Australia.
Trends Endocrinol Metab. 2011 Jun;22(6):204-10. doi: 10.1016/j.tem.2011.02.004. Epub 2011 Apr 15.
Seipin, the human Berardinelli-Seip congenital lipodystrophy 2 gene product, regulates adipocyte differentiation and lipid droplet (LD) formation. The molecular function of seipin, however, remains to be elucidated. Here we summarize recent advances in the investigation of congenital generalized lipodystrophies (CGLs) and the cellular dynamics of LDs. Increasing evidence suggests that phospholipids play a crucial role in some key forms of CGL and also in determining the size and distribution of LDs. We explore the hypothesis that seipin functions in the metabolism of phospholipids, and that seipin deficiency causes accumulation of lipid intermediates and/or alters membrane phospholipid profiles. These changes could lead to tissue-specific abnormalities upon seipin dysfunction, such as defective adipocyte development and clustered LDs in fibroblasts.
Seipin 是人类 Berardinelli-Seip 先天性脂肪营养不良 2 基因产物，调节脂肪细胞分化和脂滴 (LD) 的形成。然而，seipin 的分子功能仍有待阐明。在这里，我们总结了先天性全身性脂肪营养不良 (CGL) 和 LD 细胞动力学研究的最新进展。越来越多的证据表明，磷脂在某些 CGL 的关键形式中以及在确定 LD 的大小和分布中起着至关重要的作用。我们探讨了这样一种假设，即 seipin 参与磷脂代谢，seipin 缺乏会导致脂质中间产物的积累和/或改变膜磷脂谱。这些变化可能会导致 seipin 功能障碍时出现组织特异性异常，如脂肪细胞发育缺陷和成纤维细胞中聚集的 LD。
