Brief Communication abstract
Nature Genetics 39, 28 - 30 (2006)
Published online: 24 December 2006 | doi:10.1038/ng1951
The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy
Judith Fischer1, Caroline Lefèvre1, Eva Morava2, Jean-Marie Mussini3, Pascal Laforêt4, Anne Negre-Salvayre5, Mark Lathrop1 & Robert Salvayre5
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).
- Centre National de Génotypage, 91057 Evry Cedex, France.
- Department of Pediatrics, Radboud University Nijmegen Medical Centre, NL-6500 HB Nijmegen, The Netherlands.
- Centre Hospitalier Universitaire (CHU) de Nantes, Department of Internal Medicine, 44093 Nantes 1, France.
- Centre de Réference Pathologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75651 Paris Cedex 13, France.
- Institut National de la Santé et de la Recherche Médicale (INSERM) U-466, University Paul Sabatier, Institute Fédératif de Recherche (IFR)-31, CHU Rangueil, 31432 Toulouse Cedex 04, France.
Correspondence to: Judith Fischer1 e-mail: fischer@cng.fr
Correspondence to: Robert Salvayre5 e-mail: salvayre@toulouse.inserm.fr
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