Preclinical assessment of wt GNE gene plasmid for management of hereditary inclusion body myopathy 2 (HIBM2)

Gene Regulation and Systems Biology

Volumn 2008, Issue 2, 2008, Pages 243-252

  Jay, Chris ^a   Nemunaitis, Gregory ^b,e   Nemunaitis, John ^b,g   Senzer, Neil ^b   Hinderlich, Stephan ^c   Darvish, Daniel ^d   Ogden, Julie ^b   Eager, John ^a   Tong, Alex ^a,f   Maples, Phillip B ^a  

^a GRADALIS INC   (United States)

^b Mary Crowley Cancer Research Centers   (United States)

^c Institut für Soziale Gesundheit Katholische Hochschule für Sozialwesen Berlin   (Germany)

^d IBM RESEARCH   (United States)

^e METROHEALTH MEDICAL CENTER   (United States)

^f BAYLOR UNIVERSITY MEDICAL CENTER   (United States)

^g NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

N ACETYLMANNOSAMINEKINASE; PROTEIN KINASE; SIALIC ACID; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE;

ANIMAL CELL; ARTICLE; CHO CELL; CONTROLLED STUDY; CYTOMEGALOVIRUS; ENZYME ACTIVITY; EXPRESSION VECTOR; GENE FUNCTION; GENE MUTATION; GENE REPLACEMENT THERAPY; GENE TRANSFER; GENETIC TRANSFECTION; HEREDITARY INCLUSION BODY MYOPATHY 2; MOLECULAR CLONING; MUSCLE ATROPHY; MUSCLE FUNCTION; NONHUMAN; NUCLEOTIDE SEQUENCE; PLASMID; PROMOTER REGION; WILD TYPE;

EID: 77952557952     PISSN: None     EISSN: 11776250     Source Type: Journal    
DOI: 10.4137/grsb.s728     Document Type: Article

References (36)

1. Alberts, B., Bray, D. et al. c1994. Molecular Biology of the cell, New York, London: Garland.
2. Amsili, S., Shlomai, Z. et al. 2007. Characterization of hereditary inclusion body myopathy myoblasts: possible primary impairment of apoptotic events. Cell. Death Differ., 14(11):1916-24.
3. Argov, Z., Eisenberg, I. et al. 2003. Hereditary inclusion body myopathy: the Middle Eastern genetic cluster. Neurology, 60(9):1519-23.
4. Argov, Z. and Yarom, R. 1984. Rimmed vacuole myopathy sparing the quadriceps. A unique disorder in Iranian Jews. J. Neurol. Sci., 64(1):33-43.
5. Barr, E. and Leiden, J.M. 1991. Systemic delivery of recombinant proteins by genetically modified myoblasts. Science, 254(5037):1507-9.
6. Blume, A., Chen, H. et al. 2002. 2′,3′-Dialdehydo-UDP-N-acetylglucosamine inhibits UDP-N-acetylglucosamine 2-epimerase, the key enzyme of sialic acid biosynthesis. FEBS Lett., 521(1-3):127-32.
7. Broccolini, A., Ricci, E. et al. 2004. Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy. Hum. Mutat., 23(6):632.
8. Dalakas, M.C. 1991. Polymyositis, dermatomyositis and inclusion-body myositis. N. Engl. J. Med., 325(21):1487-98.
9. Dalakas, M.C., Koffman, B. et al. 2001. A controlled study of intravenous immunoglobulin combined with prednisone in the treatment of IBM. Neurology, 56(3):323-7.
10. Dalakas, M.C., Sonies, B. et al. 1997. Treatment of inclusion-body myositis with IVIg: a double-blind, placebo-controlled study. Neurology, 48(3):712-6.
11. Dhawan, J., Pan, L.C. et al. 1991. Systemic delivery of human growth hormone by injection of genetically engineered myoblasts. Science, 254(5037):1509-12.
12. Frank, J.S. and Langer, G.A. 1974. The myocardial interstitium: its structure and its role in ionic exchange. J. Cell. Biol., 60(3):586-601.
13. Galeano, B., Klootwijk, R. et al. 2007. Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine. J. Clin. Invest., 117(6):1585-94.
14. Hinderlich, S., Salama, I. et al. 2004. 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., 566(1-3):105-9.
15. Hinderlich, S., Stasche, R. et al. 1997. 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., 272(39):24313-8.
16. Hong, Y. and Stanley, P. 2003. Lec3 Chinese hamster ovary mutants lack UDP-N-acetylglucosamine 2-epimerase activity because of mutations in the epimerase domain of the Gne gene. J. Biol. Chem., 278(52):53045-54.
17. Huizing, M., Hermos, C.R. et al. 2002. Pr# 47: Hereditary Inclusion Body Myopathy due to mutations in the gene for UDP-GlcNAc 2-epimerase/ ManNAc kinase. American Society of Human Genetics 52nd Annual Assembly, Baltimore, Maryland.
18. Huizing, M., Rakocevic, G. et al. 2004. Hypoglycosylation of alpha-dystroglycan in patients with hereditary IBM due to GNE mutations. Mol. Genet. Metab., 81(3):196-202.
19. Krause, S., Schlotter-Weigel, B. et al. 2003. A novel homozygous missense mutation in the GNE gene of a patient with quadriceps-sparing hereditary inclusion body myopathy associated with muscle inflammation. Neuromuscul. Disord., 13(10):830-4.
20. Langer, G.A. 1978. The structure and function of the myocardial cell surface. Am. J. Physiol., 235(5):H461-8.
21. Malicdan, M.C., Noguchi, S. et al. 2007. A Gne knockout mouse expressing human GNE D176V mutation develops features similar to distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy. Hum. Mol. Genet., 16(22):2669-82.
22. Mendell, J.R., Kissel, J.T. et al. 1995. Myoblast transfer in the treatment of Duchenne's muscular dystrophy. N. Engl. J. Med., 333(13):832-8.
23. Oetke, C., Hinderlich, S. et al. 2001. Evidence for efficient uptake and incorporation of sialic acid by eukaryotic cells. Eur. J. Biochem., 268(16):4553-61.
24. Oetke, C., Hinderlich, S. et al. 2003. Epigenetically mediated loss of UDPGlcNAc 2-epimerase/ManNAc kinase expression in hyposialylated cell lines. Biochem. Biophys. Res. Commun., 308(4):892-8.
25. Oldfors, A. and Lindberg, C. 1999. Inclusion body myositis. Curr. Opin. Neurol., 12(5):527-33.
26. Partridge, T.A., Morgan, J.E. et al. 1989. Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts. Nature, 337(6203):176-9.
27. Quaggin, S.E. 2007. Sizing up sialic acid in glomerular disease. J. Clin. Invest., 117(6):1480-3.
28. Reissig, J.L., Storminger, J.L. et al. 1955. A modified colorimetric method for the estimation of N-acetylamino sugars. J. Biol. Chem., 217(2):959-66.
29. Saito, F., Tomimitsu, H. et al. 2004. A Japanese patient with distal myopathy with rimmed vacuoles: missense mutations in the epimerase domain of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene accompanied by hyposialylation of skeletal muscle glycoproteins. Neuromuscul Disord., 14(2):158-61.
30. Salama, I., Hinderlich, S. et al. 2005. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Biochem. Biophys. Res. Commun., 328(1):221-6.
31. Salzberg, S.L., White, O. et al. 2001. Microbial genes in the human genome: lateral transfer or gene loss? Science, 292(5523):1903-6.
32. Schwarzkopf, M., Knobeloch, K.P. et al. 2002. Sialylation is essential for early development in mice. Proc. Natl. Acad. Sci. U.S.A., 99(8):5267-70.
33. Shine, K.I., Serena, S.D. et al. 1971. Kinetic localization of contractile calcium in rabbit myocardium. Am. J. Physiol., 221(5):1408-17.
34. Sparks, S., Rakocevic, G. et al. 2007. Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study. BMC Neurol., 7:3.
35. Vasconcelos, O.M., Raju, R. et al. 2002. GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. Neurology, 59(11):1776-9.
36. Wang, Z., Sun, Z. et al. 2006. Roles for UDP-GlcNAc 2-epimerase/ManNAc 6-kinase outside of sialic acid biosynthesis: modulation of sialyltransferase and BiP expression, GM3 and GD3 biosynthesis, proliferation, and apoptosis, and ERK1/2 phosphorylation. J. Biol. Chem., 281(37):27016-28.