Schweiger_2009_Am.J.Physiol.Endocrinol.Metab_297_E289

Reference

Title : Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase\/PNPLA2 or CGI-58\/ABHD5 - Schweiger_2009_Am.J.Physiol.Endocrinol.Metab_297_E289
Author(s) : Schweiger M , Lass A , Zimmermann R , Eichmann TO , Zechner R
Ref : American Journal of Physiology Endocrinol Metab , 297 :E289 , 2009
Abstract :

Neutral lipid storage disease (NLSD) is a group of autosomal recessive disorders characterized by the excessive accumulation of neutral lipids in multiple tissues. Recently, two genes, adipose triglyceride lipase (ATGL/PNPLA2) and comparative gene identification-58 (CGI-58/ABHD5), have been shown to cause NLSD. ATGL specifically hydrolyzes the first fatty acid from triacylglycerols (TG) and CGI-58/ABHD5 stimulates ATGL activity by a currently unknown mechanism. Mutations in both the ATGL and the CGI-58 genes are associated with systemic TG accumulation, yet the resulting clinical manifestations are not identical. Patients with defective ATGL function suffer from more severe myopathy (NLSDM) than patients with defective CGI-58 function. On the other hand, CGI-58 mutations are always associated with ichthyosis (NLSDI), which was not observed in patients with defective ATGL function. These observations indicate an ATGL-independent function of CGI-58. This review summarizes recent findings with the goal of relating structural variants of ATGL and CGI-58 to functional consequences in lipid metabolism.

PubMedSearch : Schweiger_2009_Am.J.Physiol.Endocrinol.Metab_297_E289
PubMedID: 19401457
Gene_locus related to this paper: human-ABHD5

Related information

Gene_locus human-ABHD5
Family CGI-58_ABHD5_ABHD4

Citations formats

Schweiger M, Lass A, Zimmermann R, Eichmann TO, Zechner R (2009)
Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase\/PNPLA2 or CGI-58\/ABHD5
American Journal of Physiology Endocrinol Metab 297 :E289

Schweiger M, Lass A, Zimmermann R, Eichmann TO, Zechner R (2009)
American Journal of Physiology Endocrinol Metab 297 :E289