Skip to Main content Skip to Navigation
Journal articles

The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

Abstract : Neutral lipid storage disease comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets. Here we report a neutral lipid storage disease subgroup characterized by mild myopathy, absence of ichthyosis and mutations in both alleles of adipose triglyceride lipase (PNPLA2, also known as ATGL). Three of these mutations are predicted to lead to a truncated ATGL protein with an intact patatin domain containing the active site, but with defects in the hydrophobic domain. The block in triglyceride degradation was mimicked by short interfering RNA directed against ATGL. NLSDM is distinct from Chanarin-Dorfman syndrome, which is characterized by neutral lipid storage disease with ichthyosis, mild myopathy and hepatomegaly due to mutations in ABHD5 (also known as CGI-58).
Document type :
Journal articles
Complete list of metadatas

https://www.hal.inserm.fr/inserm-00409618
Contributor : Marie Francoise Simon <>
Submitted on : Tuesday, August 11, 2009 - 10:01:53 AM
Last modification on : Wednesday, August 19, 2020 - 11:16:29 AM

Identifiers

Collections

Citation

Judith Fischer, Caroline Lefèvre, Eva Morava, Jean-Marie Mussini, Pascal Laforêt, et al.. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.. Nature Genetics, Nature Publishing Group, 2007, 39 (1), pp.28-30. ⟨10.1038/ng1951⟩. ⟨inserm-00409618⟩

Share

Metrics

Record views

570