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

Judith Fischer, Caroline Lefèvre, Eva Morava-Kozicz, Jean Marie Mussini, Pascal Lafor̂t, Anne Negre-Salvayre, Mark Lathrop, Robert Salvayre

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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).

Original languageEnglish (US)
Pages (from-to)28-30
Number of pages3
JournalNature Genetics
Volume39
Issue number1
DOIs
StatePublished - Jan 1 2007
Externally publishedYes

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ASJC Scopus subject areas

  • Genetics

Cite this

Fischer, J., Lefèvre, C., Morava-Kozicz, E., Mussini, J. M., Lafor̂t, P., Negre-Salvayre, A., Lathrop, M., & Salvayre, R. (2007). The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nature Genetics, 39(1), 28-30. https://doi.org/10.1038/ng1951