Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon

Neuromuscular Disorders

Volumn 23, Issue 1, 2013, Pages 43-51

  Birch, Kathryn E ^a,b   Quinlivan, Ros M ^a   Morris, Glenn E ^a,b  

^a ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

^b KEELE UNIVERSITY   (United Kingdom)

Author keywords

Aminoglycoside read through; Cell model; Glycogen phosphorylase; Glycogen storage disease V; McArdle disease; Premature termination codon; PYGM

Indexed keywords

ANTIBIOTIC G 418; GLYCOGEN PHOSPHORYLASE; GREEN FLUORESCENT PROTEIN; MESSENGER RNA;

AMINO TERMINAL SEQUENCE; ANIMAL CELL; ARTICLE; CELL LINE; CHO CELL; CONTROLLED STUDY; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 5; MUTANT; NONHUMAN; NUCLEOTIDE SEQUENCE; PREMATURE TERMINATION CODON; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN METABOLISM; PROTEIN SYNTHESIS; WILD TYPE;

AMINOGLYCOSIDES; ANIMALS; CHO CELLS; CODON, NONSENSE; CRICETINAE; CRICETULUS; CYTOMEGALOVIRUS; DISEASE MODELS, ANIMAL; FEMALE; GLYCOGEN PHOSPHORYLASE, MUSCLE FORM; GLYCOGEN STORAGE DISEASE TYPE V; GREEN FLUORESCENT PROTEINS; MODELS, BIOLOGICAL; MODELS, GENETIC; MUTATION; MUTATION, MISSENSE; OVARY; RNA, MESSENGER; TRANSFECTION;

EID: 84872407113     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.06.348     Document Type: Article

References (44)

1. McArdle B. Myopathy due to a defect in muscle glycogen breakdown. Clin Sci 1951, 10:13-33.
2. Quinlivan R., Vissing J., Hilton-Jones D., et al. Physical training for McArdle disease. Cochrane Database Syst Rev 2011, 12:CD007931.
3. Quinlivan R., Buckley J., James M., et al. McArdle disease: a clinical review. J Neurol Neurosurg Psychiatry 2010, 81:1182-1188.
4. Vieitez I., Teijeira S., Fernandez J.M., et al. Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations. Neuromuscul Disord 2011, 21:817-823.
5. Bartram C., Edwards R.H., Clague J., et al. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum Mol Genet 1993, 2:1291-1293.
6. Nogales-Gadea G., Rubio J.C., Fernandez-Cadenas I., et al. Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay. Hum Mutat 2008, 29:277-283.
7. Sohn E.H., Kim H.S., Lee A.Y., et al. A novel PYGM mutation in a Korean patient with McArdle disease: the role of nonsense-mediated mRNA decay. Neuromuscul Disord 2008, 18:886-889.
8. Tsujino S., Shanske S., DiMauro S. Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease). N Engl J Med 1993, 329:241-245.
9. Martinuzzi A., Schievano G., Nascimbeni A., et al. McArdle's disease. The unsolved mystery of the reappearing enzyme. Am J Pathol 1999, 154:1893-1897.
10. Rubio J.C., Martin M.A., Garcia A., et al. McArdle's disease associated with homozygosity for the missense mutation Gly204Ser of the myophosphorylase gene in a Spanish patient. Neuromuscul Disord 1999, 9:174-175.
11. Fernandez R., Navarro C., Andreu A.L., et al. A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease. Arch Neurol 2000, 57:217-219.
12. Cox T.M. Recommendations for treating patients with Gaucher disease with emerging enzyme products. Blood Cells Mol Dis 2010, 44:84-85.
13. Schoser B., Hill V., Raben N. Therapeutic approaches in glycogen storage disease type II/Pompe disease. Neurotherapeutics 2008, 5:569-578.
14. Sermet-Gaudelus I., Boeck K.D., Casimir G.J., et al. Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis. Am J Respir Crit Care Med 2010, 182:1262-1272.
15. Wilschanski M., Miller L.L., Shoseyov D., et al. Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis. Eur Respir J 2011, 38:59-69.
16. Malik V., Rodino-Klapac L.R., Viollet L., et al. Gentamicin-induced read-through of stop codons in Duchenne muscular dystrophy. Ann Neurol 2010, 67:771-780.
17. Bellais S., Le Goff C., Dagoneau N., et al. In vitro read-through of termination codons by gentamycin in the Stuve-Wiedemann syndrome. Eur J Hum Genet 2010, 18:130-132.
18. Allamand V., Bidou L., Arakawa M., et al. Drug-induced read-through of premature stop codons leads to the stabilization of laminin alpha2 chain mRNA in CMD myotubes. J Gene Med 2008, 10:217-224.
19. Floquet C., Deforges J., Rousset J.P., et al. Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides. Nucleic Acids Res 2011, 39:3350-3362.
20. Tan P., Allen J.G., Wilton S.D., et al. A splice-site mutation causing ovine McArdle's disease. Neuromuscul Disord 1997, 7:336-342.
21. Angelos S., Valberg S.J., Smith B.P., et al. Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle. Muscle Nerve 1995, 18:736-740.
22. Tsujino S., Shanske S., Valberg S.J., et al. Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease. Neuromuscul Disord 1996, 6:19-26.
23. Nogales-Gadea G., Mormeneo E., Garcia-Consuegra I., et al. Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation. PLoS One 2010, 5.
24. Lennon G., Auffray C., Polymeropoulos M., et al. The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression. Genomics 1996, 33:151-152.
25. Strausberg R.L., Feingold E.A., Grouse L.H., et al. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Proc Natl Acad Sci U S A 2002, 99:16899-16903.
26. Pfeiffer-Guglielmi B., Fleckenstein B., Jung G., et al. Immunocytochemical localization of glycogen phosphorylase isozymes in rat nervous tissues by using isozyme-specific antibodies. J Neurochem 2003, 85:73-81.
27. Livak K.J., Schmittgen T.D. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 2001, 25:402-408.
28. Petry F., Ritz V., Meineke C., et al. Subcellular localization of rat Abca5, a rat ATP-binding-cassette transporter expressed in Leydig cells, and characterization of its splice variant apparently encoding a half-transporter. Biochem J 2006, 393:79-87.
29. Zhijian C., Chao D., Shijin Y., et al. Splicing of scorpion toxin gene BmKK2 in HEK 293T cells. J Biochem Mol Toxicol 2006, 20:1-6.
30. Durand S., Cougot N., Mahuteau-Betzer F., et al. Inhibition of nonsense-mediated mRNA decay (NMD) by a new chemical molecule reveals the dynamic of NMD factors in P-bodies. J Cell Biol 2007, 178:1145-1160.
31. Pastor F., Kolonias D., Giangrande P.H., et al. Induction of tumour immunity by targeted inhibition of nonsense-mediated mRNA decay. Nature 2010, 465:227-230.
32. Maquat L.E. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004, 5:89-99.
33. Sprang S.R., Madsen N.B., Withers S.G. Multiple phosphate positions in the catalytic site of glycogen phosphorylase: structure of the pyridoxal-5'-pyrophosphate coenzyme-substrate analog. Protein Sci 1992, 1:1100-1111.
34. Brendel C., Belakhov V., Werner H., et al. Read-through of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model. J Mol Med 2011, 89:389-398.
35. Welch E.M., Barton E.R., Zhuo J., et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007, 447:87-91.
36. Du L., Damoiseaux R., Nahas S., et al. Nonaminoglycoside compounds induce read-through of nonsense mutations. J Exp Med 2009, 206:2285-2297.
37. Hirawat S., Welch E.M., Elfring G.L., et al. Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol 2007, 47:430-444.
38. Schroers A., Kley R.A., Stachon A., et al. Gentamicin treatment in McArdle disease: failure to correct myophosphorylase deficiency. Neurology 2006, 66:285-286.
39. Howard M.T., Shirts B.H., Petros L.M., et al. Sequence specificity of aminoglycoside-induced stop condon read-through: potential implications for treatment of Duchenne muscular dystrophy. Ann Neurol 2000, 48:164-169.
40. Heier C.R., DiDonato C.J. Translational read-through by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo. Hum Mol Genet 2009, 18:1310-1322.
41. Vissing J., Duno M., Schwartz M., et al. Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease. Brain 2009, 132:1545-1552.
42. Bartram C., Edwards R.H., Beynon R.J. McArdle's disease-muscle glycogen phosphorylase deficiency. Biochim Biophys Acta 1995, 1272:1-13.
43. Fantur K.M., Wrodnigg T.M., Stutz A.E., et al. Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB1 alleles causing G(M1)-gangliosidosis and Morquio B disease. J Inherit Metab Dis 2011.
44. Luan Z., Higaki K., Aguilar-Moncayo M., et al. Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin. Chembiochem 2009, 10:2780-2792.