A myopathy with unusual features caused by PNPLA2 gene mutations

Elena M. Pennisi, Sara Missaglia, Salvatore Dimauro, Cinzia Bernardi, Hasan Orhan Akman, Daniela Tavian

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

20 Citazioni (Scopus)


Introduction: The PNPLA2 gene encodes the enzyme adipose triglyceride lipase (ATGL), which catalyzes the first step of triglyceride hydrolysis. Mutations in this gene are associated with an autosomal recessive lipid-storage myopathy, neutral lipid-storage disease with myopathy (NLSD-M). Results: A 72-year-old woman had late-onset myopathy, with mild weakness, cramps, and exercise intolerance. Electromyography showed myotonic discharges. A few leukocytes showed lipid droplets (Jordan anomaly). Deltoid and quadriceps muscle biopsies showed no lipid storage. Genetic analysis of PNPLA2 detected 2 heterozygous mutations: c.497A>G (p.Asp166Gly) in exon 5 and c.1442C>T (p.Pro481Leu) in exon 10. Expression of mutant PNPLA2 plasmids in HeLa cells resulted in impaired enzyme activity, confirming the pathological effects of the mutations. Conclusions: In this case of NLSD-M, the myopathy may be due to a metabolic defect rather than to a mechanical effect of lipid storage. This suggests that more than 1 mechanism contributes to muscle damage in NLSD-M.
Lingua originaleEnglish
pagine (da-a)609-613
Numero di pagine5
Stato di pubblicazionePubblicato - 2015


  • ATGL enzyme
  • PNPLA2 gene
  • functional study
  • lipid metabolism
  • lipid myopathy
  • lipid storage


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