Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene

Biochemical and Biophysical Research Communications

Volumn 430, Issue 1, 2013, Pages 241-244

  Fiorillo, Chiara ^a   Brisca, Giacomo ^b   Cassandrini, Denise ^a   Scapolan, Sara ^b   Astrea, Guja ^a   Valle, Maura ^b   Scuderi, Francesca ^b   Trucco, Federica ^b   Natali, Andrea ^c   Magnano, Gianmichele ^b   Gazzerro, Elisabetta ^b   Minetti, Carlo ^b   Arca, Marcello ^d   Santorelli, Filippo M ^a   Bruno, Claudio ^b  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b G GASLINI INSTITUTE   (Italy)

^c UNIVERSITY OF PISA   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Adipose triglyceride lipase; HyperCKemia; Lipid storage myopathy; Neutral lipid storage disease; Neutral lipid storage disease with myopathy

Indexed keywords

CARNITINE PALMITOYLTRANSFERASE; CREATINE KINASE; GENOMIC DNA; MEMBRANE PROTEIN; PROTEIN PNPLA2; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CHILDHOOD; CREATINE KINASE BLOOD LEVEL; ELECTROMYOGRAPHY; EXON; HETEROZYGOTE; HUMAN; IMMUNOHISTOCHEMISTRY; INSULIN RESISTANCE; INTRON; LEUKOCYTE; LIPIDOSIS; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOPATHY; NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; QUADRICEPS FEMORIS MUSCLE; SEQUENCE ANALYSIS; TIBIALIS ANTERIOR MUSCLE; TRIACYLGLYCEROL BLOOD LEVEL;

ADOLESCENT; AMINO ACID SEQUENCE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; LIPASE; LIPID METABOLISM, INBORN ERRORS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION;

EID: 84872406625     PISSN: 0006291X     EISSN: 10902104     Source Type: Journal    
DOI: 10.1016/j.bbrc.2012.10.127     Document Type: Article

References (20)

1. Bruno C., Dimauro S. Lipid storage myopathies. Curr. Opin. Neurol. 2008, 21:601-606.
2. Schweiger M., Lass A., Zimmermann R., Eichmann T.O., Zechner R. Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am. J. Physiol. Endocrinol. Metab. 2009, 297:E289-E296.
3. Fischer J., Lefèvre C., Morava E., Mussini J.M., Laforêt P., Negre-Salvayre A., Lathrop M., Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat. Genet. 2007, 39:28-30.
4. Lefevre C., Jobard F., Caux F., Bouadjar B., Karaduman A., Heilig R., Lakhdar H., Wollenberg A., Verret J.L., Weissenbach J., Ozgüc M., Lathrop M., Prud'homme J.F., Fischer J. Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am. J. Hum. Genet. 2001, 69:1002-1012.
5. Bruno C., Bertini E., Di Rocco M., Cassandrini D., Ruffa G., De Toni T., Seri M., Spada M., Li Volti G., D'Amico A., Trucco F., Arca M., Casali C., Angelini C., Dimauro S., Minetti C. Clinical and genetic characterization of Chanarin-Dorfman syndrome. Biochem. Biophys. Res. Commun. 2008, 369:1125-1128.
6. Laforêt P., Vianey-Saban C. Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. Neuromuscul. Disord. 2010, 20:693-700.
7. Reilich P., Horvath R., Krause S., Schramm N., Turnbull D.M., Trenell M., Hollingsworth K.G., Gorman G.S., Hans V.H., Reimann J., MacMillan A., Turner L., Schollen A., Witte G., Czermin B., Holinski-Feder E., Walter M.C., Schoser B., Lochmüller H. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J. Neurol. 2011, 258:1987-1997.
8. Akman H.O., Davidzon G., Tanji K., Macdermott E.J., Larsen L., Davidson M.M., Haller R.G., Szczepaniak L.S., Lehman T.J., Hirano M., DiMauro S. Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. Neuromuscul. Disord. 2010, 20:397-402.
9. Morandi L., Angelini C., Prelle A., Pini A., Grassi B., Bernardi G., Politano L., Bruno C., De Grandis D., Cudia P., Citterio A A. High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm. Neurol. Sci. 2006, 27:303-311.
10. Mercuri E., Pichiecchio A., Counsell S., Allsop J., Cini C., Jungbluth H., Uggetti C., Bydder G. A short protocol for muscle MRI in children with muscular dystrophies. Eur. J. Paediatr. Neurol. 2002, 6:305-307.
11. Gaeta M., Minutoli F., Toscano A., Celona A., Musumeci O., Racchiusa S., Mazziotti S. Opposed-phase MR imaging of lipid storage myopathy in a case of Chanarin-Dorfman disease. Skeletal Radiol. 2008, 37:1053-1057.
12. Akiyama M., Sakai K., Ogawa M., McMillan J.R., Sawamura D., Shimizu H. Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. Muscle Nerve 2007, 36:856-859.
13. Kobayashi K., Inoguchi T., Maeda Y., Nakashima N., Kuwano A., Eto E., Ueno N., Sasaki S., Sawada F., Fujii M., Matoba Y., Sumiyoshi S., Kawate H., Takayanagi R. The lack of the C-terminal domain of adipose triglyceride lipase causes neutral lipid storage disease through impaired interactions with lipid droplets. J. Clin. Endocrinol. Metab. 2008, 93:2877-2884.
14. Hirano K., Ikeda Y., Zaima N., Sakata Y., Matsumiya G. Triglyceride deposit cardiomyovasculopathy. N. Engl. J. Med. 2008, 359:2396-2398.
15. Campagna F., Nanni L., Quagliarini F., Pennisi E., Michailidis C., Pierelli F., Bruno C., Casali C., DiMauro S., Arca M. Novel mutations in the adipose trigliceride lipase gene causing neutral lipid storage disease with myopathy. Biochem. Biophys. Res. Commun. 2008, 377:843-846.
16. Ohkuma A., Noguchi S., Sugie H., Malicdan M.C., Fukuda T., Shimazu K., López L.C., Hirano M., Hayashi Y.K., Nonaka I., Nishino I. Clinical and genetic analysis of lipid storage myopathies. Muscle Nerve 2009, 39:333-342.
17. Chen J., Hong D., Wang Z., Yuan Y. A novel PNPLA2 mutation causes neutral lipid storage disease with myopathy (NLSDM) presenting muscular dystrophic features with lipid storage and rimmed vacuoles. Clin. Neuropathol. 2010, 29:351-356.
18. Lin P., Li W., Wen B., Zhao Y., Fenster D.S., Wang Y., Gong Y., Yan C. Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy. J. Hum. Genet. 2012, 84. 10.1038/jhg.2012.84.
19. Ash D.B., Papadimitriou D., Hays A.P., DiMauro S., Hirano M M. A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy. Arch. Neurol. 2012, 69:1190-1192.
20. Kyriakides T., Angelini C., Schaefer J., Sacconi S., Siciliano G., Vilchez J.J., Hilton-Jones D., European federation of neurological societies EFNS guidelines on the diagnostic approach to pauci- or asymptomatic hyperCKemia. Eur. J. Neurol. 2010, 17:767-773.