Seipin and congenital generalized lipodystrophy

Abstract:

In 2001，a locus for congenital generalized lipodystrophy（CGL） was identified on chromosome 11q13 by positional cloning，and mutations in a novel gene were named Seipin. Human Seipin is an ER-resident protein. Expressions of seipin protein can be de－tected in adipose tissues and motor neurons. Seipin gene was originally identified as a loss-of-function gene for CGL type Ⅱ，a condi－tion characterized by severe lipodystrophy of both metabolically active and mechanical adipocytes. This paper reviewed the structure and distribution of Seipin gene as well as the features and clinical manifestations of CGL genetically defective Seipin gene. Mean－while，it disscussed the role of Seipin gene in the pathogenesis of CGL typeⅡ from the aspects of morphology and differentiation of lipid droplets.