The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene

Journal of Neurology

Volumn 258, Issue 11, 2011, Pages 1987-1997

  Reilich, Peter ^a   Horvath, Rita ^b,c,h   Krause, Sabine ^a   Schramm, Nicolai ^d   Turnbull, Doug M ^b   Trenell, Michael ^b   Hollingsworth, Kieren G ^b   Gorman, Grainne S ^b   Hans, Volkmar H ^e   Reimann, Jens ^f   MacMillan, Andrée ^g   Turner, Lesley ^g   Schollen, Annette ^d   Witte, Gregor ^d   Czermin, Birgit ^h   Holinski Feder, Elke ^h   Walter, Maggie C ^a   Schoser, Benedikt ^a   Lochmüller, Hanns ^c  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d UNIVERSITY OF MUNICH   (Germany)

^e EVANGELISCHES KRANKENHAUS   (Germany)

^f UNIVERSITY HOSPITAL BONN   (Germany)

^g MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^h Medical Genetic Centre   (Germany)

Author keywords

Neutral lipid storage myopathy (NLSDM); PNPLA2; Treatment

Indexed keywords

ACID PHOSPHATASE; CLENBUTEROL; CREATINE KINASE; CYTOCHROME C OXIDASE; DEXAMETHASONE; FAT DROPLET; PATATIN LIKE PHOSPHOLIPASE DOMAIN CONTAINING PROTEIN 2; PHOSPHOLIPASE; SALMETEROL; SUCCINATE DEHYDROGENASE; UNCLASSIFIED DRUG; PNPLA2 PROTEIN, HUMAN; TRIACYLGLYCEROL LIPASE;

ADULT; ARTICLE; CARDIOMYOPATHY; CELL LABELING; CLINICAL ARTICLE; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; FEMALE; GENE MUTATION; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VITRO STUDY; LIPIDOSIS; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; NEUTRAL LIPID STORAGE DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PELVIC GIRDLE; PHENOTYPE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; SHOULDER GIRDLE; WHOLE BODY MRI; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; DISORDERS OF LIPID AND LIPOPROTEIN METABOLISM; GENETICS; MUSCLE DISEASE; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PATHOPHYSIOLOGY; SKELETAL MUSCLE;

ADULT; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; LIPASE; LIPID METABOLISM, INBORN ERRORS; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PHENOTYPE;

EID: 84857769995     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-011-6055-4     Document Type: Article

References (37)

1. Laforet P, Vianey-Saban C (2010) Disorders of muscle lipid metabolism: diagnostic and therapeutic challenges. Neuromuscul Disord 20:693-700
2. Bruno C, Dimauro S (2008) Lipid storage myopathies. Curr Opin Neurol 21:601-606
3. Gempel K, Topaloglu H, Talim B et al (2007) The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring- flavoprotein dehydrogenase (ETFDH) gene. Brain 130:2037-2044
4. Olsen RK, Olpin SE, Andresen BS et al (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045-2054
5. Nezu J, Tamai I, Oku A et al (1999) Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. Nat Genet 21:91-94
6. Dorfman ML, Hershko C, Eisenberg S et al (1974) Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol 110:261-266
7. Srebrnik A, Tur E, Perluk C et al (1987) Dorfman-Chanarin syndrome. A case report and a review. J Am Acad Dermatol 17:801-808
8. Lefevre C, Jobard F, Caux F et al (2001) Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome. Am J Hum Genet 69:1002-1012
9. Chanarin I, Patel A, Slavin G et al (1975) Neutral-lipid storage disease: a new disorder of lipid metabolism. Br Med J 1:553-555
10. Yamaguchi T, Osumi T (2009) Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase. Biochim Biophys Acta 1791:519-523
11. Fischer J, Lefevre C, Morava E et al (2007) The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 39:28-30
12. Jordans GH (1953) The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.). Acta Med Scand 145:419-423
13. Rozenszajn L, Klajman A, Yaffe D et al (1966) Jordans' anomaly in white blood cells. Report of case. Blood 28:258-265
14. Lass A, Zimmermann R, Haemmerle G et al (2006) Adipose triglyceride lipase-mediated lipolysis of cellular fat stores is activated by CGI-58 and defective in Chanarin-Dorfman Syndrome. Cell Metab 3:309-319
15. Zimmermann R, Strauss JG, Haemmerle G et al (2004) Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. Science 306:1383-1386
16. Jenkins CM, Mancuso DJ, Yan W et al (2004) Identification, cloning, expression, and purification of three novel human calcium-independent phospholipase A2 family members possessing triacylglycerol lipase and acylglycerol transacylase activities. J Biol Chem 279:48968-48975
17. Schweiger M, Schreiber R, Haemmerle G et al (2006) Adipose triglyceride lipase and hormone-sensitive lipase are the major enzymes in adipose tissue triacylglycerol catabolism. J Biol Chem 281:40236-44024
18. Ohkuma A, Nonaka I, Malicdan MC et al (2008) Distal lipid storage myopathy due to PNPLA2 mutation. Neuromuscul Disord 18:671-674
19. Schweiger M, Lass A, Zimmermann R et al (2009) Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5. Am J Physiol Endocrinol Metab 297:E289-E296
20. Hirano K, Ikeda Y, Zaima N et al (2008) Triglyceride deposit cardiomyovasculopathy. N Engl J Med 359:2396-2398
21. Schroder JM, Hoheneck M, Weis J et al (1985) Ethylene oxide polyneuropathy: clinical follow-up study with morphometric and electron microscopic findings in a sural nerve biopsy. J Neurol 232:83-90
22. Weis J, Schroder JM (1988) Adult polyglucosan body myopathy with subclinical peripheral neuropathy: case report and review of diseases associated with polyglucosan body accumulation. Clin Neuropathol 7:271-279
23. Weis J, Kaussen M, Calvo S et al (2000) Denervation induces a rapid nuclear accumulation of MRF4 in mature myofibers. Dev Dyn 218:438-451
24. Weis J, Schroder JM (1989) Differential effects of nerve, muscle, and fat tissue on regenerating nerve fibers in vivo. Muscle Nerve 12:723-734
25. Fischer JC, Ruitenbeek W, Gabreels FJ et al (1986) A mito-chondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr 144:441-444
26. Goodman SI, Binard RJ, Woontner MR et al (2002) Glutaric acidemia type II: gene structure and mutations of the electron transfer flavoprotein: ubiquinone oxidoreductase (ETF:QO) gene. Mol Genet Metab 77:86-90
27. Kobayashi K, Inoguchi T, Maeda Y et al (2008) 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 93:2877-2884
28. Szczepaniak LS, Nurenberg P, Leonard D et al (2005) Magnetic resonance spectroscopy to measure hepatic triglyceride content: prevalence of hepatic steatosis in the general population. Am J Physiol Endocrinol Metab 288:E462-E468
29. Langin D (2006) Adipose tissue lipolysis as a metabolic pathway to define pharmacological strategies against obesity and the metabolic syndrome. Pharmacol Res 53:482-491
30. Villena JA, Roy S, Sarkadi-Nagy E et al (2004) Desnutrin, an adipocyte gene encoding a novel patatin domain-containing protein, is induced by fasting and glucocorticoids: ectopic expression of desnutrin increases triglyceride hydrolysis. J Biol Chem 279:47066-47075
31. Akman HO, Davidzon G, Tanji K et al (2010) Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. Neuromuscul Disord 20:397-402
32. Campagna F, Nanni L, Quagliarini F et al (2008) Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. Biochem Biophys Res Commun 377:843-846
33. Akiyama M, Sakai K, Ogawa M et al (2007) Novel duplication mutation in the patatin domain of adipose triglyceride lipase (PNPLA2) in neutral lipid storage disease with severe myopathy. Muscle Nerve 36:856-859
34. Ohkuma A, Noguchi S, Sugie H et al (2009) Clinical and genetic analysis of lipid storage myopathies. Muscle Nerve 39:333-342
35. Di Mauro S, Trevisan C, Hays A (1980) Disorders of lipid metabolism in muscle. Muscle Nerve 3:369-388
36. Ogasawara J, Nomura S, Rahman N et al (2010) Hormone-sensitive lipase is critical mediators of acute exercise-induced regulation of lipolysis in rat adipocytes. Biochem Biophys Res Commun 400:134-139
37. Lu X, Yang X, Liu J (2010) Differential control of ATGL-mediated lipid droplet degradation by CGI-58 and G0S2. Cell Cycle 9:2719-2725