The mild benefits in muscle strength experienced by HIBM patients after IVIG …

• Abstract
• Background
• Methods
• Results
• Discussion
• Conclusion
• Abbreviations
• References
• Figures
• Tables

Biology Articles » Immunobiology » Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study » References

References

- Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study

1.   Griggs RC, Askanas V, DiMaur S, Engel A, Karpati G, Mendell JR, Rowland LP: Inclusion body myositis and myopathies.Ann Neurol 1995, 38:705-715.       2.   Sadeh M, Gadoth N, Hadar H, Ben-David E: Vacuolar myopathy sparing the quadriceps.Brain 1993, 116:217-232.       3.   Sivakuma K, Dalakas MC: The spectrum of familial inclusion body myopathies in 13 families and description of a quadriceps sparing phenotype in non Iranian Jews.Neurology 1996, 47:977-984.       4.   Argov Z, Eisenberg I, Grabov-Nardini G, Sadeh M, Wirguin I, Soffer D, Mitrani-Rosenbaum S: Hereditary inclusion body myopathy. The Middle Eastern genetic cluster.Neurology 2003, 60:1519-1523.       5.   Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, Barash M, Shemesh M, Sadeh M, Grabov-Nardini G, Shmilevich I, Friedmann A, Karpati , Bradley WG, Baumbach L, Lancet D, Asher EB, Beckmann JS, Argov Z, Mitrani-Rosenbaum S: The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in hereditary inclusion body myopathy.Nat Genet 2001, 29:83-89.       6.   Hinderlich S, Stasche R, Zeitler R, Reutter W: A bifunctional enzyme catalyzes the first two steps in N-acetylneuraminic acid biosynthesis of rat liver. Purification and characterization of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.J Biol Chem 1997, 272:24313-24318.       7.   Keppler OT, Hinderlich S, Langner J, Schwartz-Albiez R, Reutter W: UDP-GlcNAc 2-epimerase: a regulator of cell surface sialylation.Science 1999, 284:1372-1376.       8.   Darvish D, Vahedifar P, Huo Y: Four novel mutations associated with autosomal recessive inclusion body myopathy (MIM: 600737).Mol Genet Metab 2002, 77:252-256.       9.   Vasconcelos OM, Raghavan R, Dalakas C: GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM.Neurology 2002, 59:1776-1779.       10.   Del Bo R, Baron P, Prelle A, Serafini M, Moggio M, Fonzo AD, Castagni M, Bresolin N, Comi GP: Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.Muscle Nerve 2003, 28:113-117.       11.   Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, Bushby K, Castellan C, Felice K, Mendell J, Merlini L, Shilling C, Wirguin I, Argov Z, Mitrani-Rosenbaum S: Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps.Hum Mutat 2003, 21:99.       12.   Broccolini A, Ricci E, Cassandrini D, Gliubizzi C, Bruno C, Tonoli E, Silvestri G, Pescatori M, Rodolico C, Sinicropi S, Servidei S, Zara F, Minetti C, Tonali PA, Mirabella M: Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy.Hum Mutat 2004, 23:632.       13.   Kayashima T, Matsuo H, Satoh A, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Niikawa N, Kishino T: Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE).J Hum Genet 2002, 47:77-79.       14.   Nishino I, Noguchi S, Murayama K, Driss A, Sugie K, Oya Y, Nagata T, Chida K, Takahashi T, Takusa Y, Ohi T, Nishimiya J, Sunohara N, Ciafaloni E, Kawai M, Aoki M, Nonaka I: Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy.Neurology 2002, 59:1689-1693.       15.   Tomimitsu H, Ishikawa K, Shimizu J, Ohkoshi N, Kanazawa I, Mizusawa H: Distal myopathy with rimmed vacuoles: Novel mutations in the GNE gene.Neurology 2002, 59:451-454.       16.   Sparks SE, Ciccone C, Lalor M, Orvisky E, Klootwijk R, Savelkoul PJ, Dalakas MC, Krasnewich DM, Gahl WA, Huizing M: Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human Hereditary Inclusion Body Myopathy.Glycobiology 2005, 15:1102-1110.       17.   Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, Kawahara G, Oya Y, Imazawa M, Goto Y, Hayashi YK, Nonaka I, Nishino I: Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialylation in distal myopathy with rimmed vacuoles.J Biol Chem 2004, 279:11402-11407.       18.   Varki A: Diversity in the sialic acids.Glycobiology 1992, 2:25-40.       19.   Varki A: Sialic acids as ligands in recognition phenomena.FASEB J 1997, 11:248-255.       20.   Kelm S, Schauer R: Sialic acids in molecular and cellular interactions.Int Rev Cytol 1997, 175:137-240.       21.   Saito F, Tomimitsu H, Aria K, Nakai S, Kanda T, Shimizu T, Mizusawa H, Matsumura K: A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domaine of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialiylation of skeletal muscle glycoproteins.Neuromusc Disord 2004, 14:158-161.       22.   Tajima Y, Uyama E, Go S, Sato C, Tao N, Kotani M, Hino H, Suzuki A, Sanai Y, Kitajima K, Sakuraba H: Distal Myopathy with Rimmed Vacuoles: Impaired O-glycan formation in muscular glycoproteins.Am J Pathol 2005, 166:1121-1130.       23.   Ricci E, Broccolini A, Gidaro T, Morosetti R, Gliubizzi C, Frusciante R, Di Lella GM, Tonali PA, Mirabella M: NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.Neurology 2006, 66:755-758.       24.   Huizing M, Rakocevic G, Sparks SE, Mamali I, Shatunov A, Goldfarb L, Krasnewich D, Gahl WA, Dalakas MC: Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations.Mol Genet Metab 2004, 81:196-202.       25.   Michele DE, Campbell KP: Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function.J Biol Chem 2003, 278:15457-15460.       26.   Martin PT: Dystroglycan glycosylation and its role in matrix binding in skeletal muscle.Glycobiology 2003, 13:55R-66R.       27.   Grewal PK, Hewitt JE: Glycosylation defects: a new mechanism for muscular dystrophy?Hum Mol Genet 2003, 12(Spec No 2):R259-R264.       28.   Winder SJ: The complexities of dystroglycan.Trends Biochem Sci 2001, 26:118-124.       29.   Endo T: Aberrant glycosylation of alpha-dystroglycan and congenital muscular dystrophies.Acta Myol 2005, 24:64-69.       30.   Sydow O: Sialic acid content in serum IgG from patients with myotonic dystrophy compared to healthy controls.Acta Neurol Scand 1989, 80:476-478.       31.   Andres PL, Hedlund W, Finison L, Conlon T, Felmus M, Munsat TL: Quantitative motor assessment in amyotrophic lateral sclerosis.Neurology 1986, 36:937-941.       32.   Robbins J, Levine R, Wood J, Roecker EB, Luschei E: Age effects on lingual pressure generation as a risk factor for dysphagia.J Gerontol A Biol Sci Med Sci 1995, 50:M257-262.       33.   Robbins J, Gangnon RE, Theis SM, Kays SA, Hewitt AL, Hind JA: The effects of lingual exercise on swallowing in older adults.J Am Geriatr Soc 2005, 53:1483-1489.       34.   Lin M-R, Hwang H-F, Hu M-H, Wu H-DI, Wang Y-W, Huang F-C: Psychometric comparisons of the timed up and go, one-leg stand, functional reach, and tinetti balance measures in community-dwelling older people.J Am Geriatr Soc 2004, 52:1343-1348.       35.   ATS statement: Guidelines for the six-minute walk test.Am J Respir Crit Care Med 2002, 166:111-117.       36.   van Eijk HG, van Noort WL: The analysis of human serum transferrins with the PhastSystem: quantitation of microheterogeneity.Electrophoresis 1992, 13:354-358.         37.   Savelkoul PJM, Manoli I, Sparks S, Ciccone C, Gahl WA, Krasnewich DM, Huizing M: Normal sialylation status of N-linked and O-GalNAc linked glycans in Hereditary Inclusion Body Myopathy.Mol Genet Metab 2006, 88:389-390.       38.   Wopereis S, Grunewald S, Monrova E, Penzien JM, Briones P, Garcia-Silva MT, Demacker PN, Huijben KM, Wevers RA: Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.Clin Chem 2003, 49:1839-1845.       39.   Ronn LC, Berezin V, Bock E: The neural cell adhesion molecule in synaptic plasticity and ageing.Int J Dev Neurosci 2000, 18:193-199.       40.   Illa I, Leon-Monzon M, Dalakas MC: Regenerating and denervated human muscle fibers and satellite cells express neural cell adhesion molecule recognized by monoclonal antibodies to natural killer cells.Ann Neurol 1992, 31:46-52.       41.   Franz CK, Rutishauser U, Rafuse VF: Polysialylated neural cell adhesion molecule is necessary for selective targeting of regenerating motor neurons.J Neurosci 2005, 25:2081-2091.       42.   Covault J, Sanes JR: Neural Cell Adhesion Molecule (N-CAM) accumulates in denervated and paralyzed skeletal muscles.Proc Natl Acad Sci USA 1985, 82:4544-4548.       43.   Hinderlich S, Salama I, Eisenberg I, Potikha T, Mantey LR, Yarema KJ, Horstkorte R, Argov Z, Sadeh M, Reutter W, Mitrani-Rosenbaum S: The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy.FEBS Lett 2004, 566:105-109.       44.   Salama I, Hinderlich S, Shlomai Z, Eisenberg I, Krause S, Yarema K, Argov Z, Lochmuller H, Reutter W, Dabby R, Sadeh M, Ben-Bassat H, Mitrani-Rosenbaum S: No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation.Biochem Biophy Res Comm 2005, 328:221-226.       45.   Broccolini A, Gliubizzi C, Pavoni E, Gidaro T, Morosetti R, Sciandra F, Giardina B, Tonali P, Ricci E, Brancaccio A, Mirabella M: α-Dystroglycan does not play a major pathogenic role in autosomal recessive hereditary inclusion-body myopathy.Neuromusc Disord 2005, 15:177-184.       46.   Seppala R, Renlund M, Bernardini I, Tietze F, Gahl WA: Renal handling of free sialic acid in normal humans and patients with Salla disease, renal Fanconi syndrome, or glomerular insufficiency.Lab Invest 1990, 63:197-203.       47.   Kaneko Y, Nimmerjahn F, Ravetch JV: Anti-inflammatory activity of immunoglobulin G resulting from Fc sialylation.Science 2006, 313:670-673.       48.   Dalakas MC: Intravenous immunoglobulin I auoimmune neuromuscular diseases.JAMA 2004, 291:2367-2375.       49.   Aitkens S, Lord J, Bernauer E, Fowler WM, Lieberman JS, Berck P: Relationship of manual muscle testing to objective strength measurements.Muscle Nerve 1989, 12:173-177.       50.   Hinderlich S, Nohring S, Weise C, Franke P, Stasche R, Reutter W: Purification and characterization of N-acetylglucosamine kinase from rat liver-comparison with UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase.Eur J Biochem 1998, 252:133-139.       51.   Schwarzkopf M, Knobelock KP, Rohde E, Hinderlich S, Wiechens N, Lucka L, Horak I, Reutter W, Horstkorte R: Sialylation is essential for early development in mice.Proc Natl Acad Sci USA 2002, 99:5267-5270.       52.   Huizing M, Kloowijk R, Galeano B, Manoli I, Sun MS, Ciccone C, Darvish D, Krasnewich D, Gahl WA: N-Acetylmannosamine treatment rescues a mouse model of Hereditary Inclusion Body Myopathy.Glycobiology 2006, 16:1110.     (Abstr. 35)