A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy

Archives of Neurology

Volumn 69, Issue 9, 2012, Pages 1190-1192

  Ash, Daniel B ^a   Papadimitriou, Dimitra ^b   Hays, Arthur P ^a   DiMauro, Salvatore ^a   Hirano, Michio ^a  

^a NewYork Presbyterian Hospital   (United States)

^b HENRY DUNANT HOSPITAL   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYBUTYRIC ACID; ADIPOSE TRIGLYCERIDE LIPASE; ALANINE; CREATINE KINASE; FAT DROPLET; TRIACYLGLYCEROL LIPASE; UNCLASSIFIED DRUG;

AGED; ARTICLE; BLOOD SMEAR; CASE REPORT; CONTROLLED STUDY; CREATININE BLOOD LEVEL; ELECTROMYOGRAPHY; EXON; GAIT DISORDER; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; LEG MUSCLE; LIPIDOSIS; MALE; MUSCLE ATROPHY; MUSCLE WEAKNESS; MYOPATHY; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; PNPLA2 GENE; PRIORITY JOURNAL; TIBIALIS ANTERIOR MUSCLE;

AGED; HUMANS; LIPASE; LIPID METABOLISM, INBORN ERRORS; MALE; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PEDIGREE;

EID: 84866132292     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2011.2600     Document Type: Article

References (12)

1. Jordans GH. The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.). Acta Med Scand. 1953;145(6):419-423.
2. Dorfman ML, Hershko C, Eisenberg S, Sagher F. Ichthyosiform dermatosis with systemic lipidosis. Arch Dermatol. 1974;110(2):261-266.
3. Chanarin I, Patel A, Slavin G, Wills EJ, Andrews TM, Stewart G. Neutral-lipid storage disease: a new disorder of lipid metabolism. Br Med J. 1975;1(5957):553-555.
4. Lefèvre C, Jobard F, Caux F, et al. 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(5):1002-1012.
5. Fischer J, Lefèvre C, Morava E, et al. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet. 2007;39(1):28-30.
6. Reilich P, Horvath R, Krause S, et al. The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol. 2011;258(11):1987-1997.
7. Akman HO, Davidzon G, Tanji K, et al. Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. Neuromuscul Disord. 2010;20(6):397-402.
8. Zimmermann R, Strauss JG, Haemmerle G, et al. Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase. Science. 2004;306(5700):1383-1386. (Pubitemid 39532517)
9. Soni KG, Mardones GA, Sougrat R, Smirnova E, Jackson CL, Bonifacino JS. Coatomer-dependent protein delivery to lipid droplets. J Cell Sci. 2009;122 (pt 11):1834-1841.
10. Grönke S, Mildner A, Fellert S, et al. Brummer lipase is an evolutionary conserved fat storage regulator in Drosophila. Cell Metab. 2005;1(5):323-330.
11. Duncan RE, Wang Y, Ahmadian M, Lu J, Sarkadi-Nagy E, Sul HS. Characterization of desnutrin functional domains: critical residues for triacylglycerol hydrolysis in cultured cells. J Lipid Res. 2010;51(2):309-317.
12. Schweiger M, Schoiswohl G, Lass A, et al. The C-terminal region of human adipose triglyceride lipase affects enzyme activity and lipid droplet binding. J Biol Chem. 2008;283(25):17211-17220.