The effect of gentamicin-induced readthrough on a novel premature termination codon of CD18 leukocyte adhesion deficiency patients

PLoS ONE

Volumn 5, Issue 11, 2010, Pages

  Simon, Amos J ^a,b   Lev, Atar ^a,b   Wolach, Baruch ^b,c   Gavrieli, Ronit ^b,c   Amariglio, Ninette ^a,b   Rosenthal, Ester ^a,b   Gazit, Ephraim ^a,b   Eyal, Eran ^a,b   Rechavi, Gideon ^a,b   Somech, Raz ^a,b  

^a SHEBA MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c MEIR MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

CD11 ANTIGEN; CD18 ANTIGEN; GENOMIC DNA; GENTAMICIN; HETERODIMER; LYMPHOCYTE FUNCTION ASSOCIATED ANTIGEN 1; PROTEIN SYNTHESIS INHIBITOR;

ANTIGEN EXPRESSION; ARTICLE; BONE MARROW TRANSPLANTATION; CASE REPORT; CD18 GENE; CELL SURFACE; CHEMOTAXIS; CHILD; COMPLEX FORMATION; CONTROLLED STUDY; CYTOPLASM; DISEASE SEVERITY; DRUG MECHANISM; EXON; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE TEST; IN VITRO STUDY; IN VIVO STUDY; LEUKOCYTE ADHERENCE; LEUKOCYTE ADHESION DEFICIENCY; LEUKOCYTE ADHESION DEFICIENCY 1; LEUKOCYTE COUNT; LEUKOCYTE FUNCTION; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PALESTINE; PERIPHERAL BLOOD MONONUCLEAR CELL; PHENOTYPE; PREMATURE TERMINATION CODON; PRESCHOOL CHILD; PROTEIN ANALYSIS; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STABILITY; SCHOOL CHILD; STOP CODON; THEORETICAL MODEL; CELL CULTURE; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; DRUG EFFECT; FATALITY; FLUORESCENCE MICROSCOPY; GENETICS; INFANT; LYMPHOCYTE; METABOLISM; PATHOLOGY; PROTEIN CONFORMATION; PROTEIN SYNTHESIS; WESTERN BLOTTING;

ANTIGENS, CD18; BLOTTING, WESTERN; CELL LINE, TRANSFORMED; CELLS, CULTURED; CODON, NONSENSE; CYTOPLASM; FATAL OUTCOME; GENTAMICINS; HUMANS; INFANT; LEUKOCYTE-ADHESION DEFICIENCY SYNDROME; LYMPHOCYTES; MALE; MICROSCOPY, FLUORESCENCE; MODELS, MOLECULAR; PROTEIN BIOSYNTHESIS; PROTEIN CONFORMATION; PROTEIN SYNTHESIS INHIBITORS;

EID: 78649523122     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0013659     Document Type: Article

References (40)

1. Dinauer MC (2007) Disorders of neutrophil function: an overview. Methods Mol Biol 412: 489-504.
2. Bunting M, Harris ES, McIntyre TM, Prescott SM, Zimmerman GA (2002) Leukocyte adhesion deficiency syndromes: adhesion and tethering defects involving beta 2 integrins and selectin ligands. Curr Opin Hematol 9: 30-35.
3. Wardlaw AJ, Hibbs ML, Stacker SA, Springer TA (1990) Distinct mutations in two patients with leukocyte adhesion deficiency and their functional correlates. J Exp Med 172: 335-345.
4. Fiorini M, Piovani G, Schumacher RF, Magri C, Bertini V, et al. (2009) ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency. J Allergy Clin Immunol 124: 1356-1358.
5. Xi B, Guan F, Lawrence DS (2004) Enhanced production of functional proteins from defective genes. J Am Chem Soc 126: 5660-5661.
6. Karimi R, Pavlov MY, Buckingham RH, Ehrenberg M (1999) Novel roles for classical factors at the interface between translation termination and initiation. Mol Cell 3: 601-609.
7. Murphy GJ, Mostoslavsky G, Kotton DN, Mulligan RC (2006) Exogenous control of mammalian gene expression via modulation of translational termination. Nat Med 12: 1093-1099.
8. Hermann T (2007) Aminoglycoside antibiotics: old drugs and new therapeutic approaches. Cell Mol Life Sci 64: 1841-1852.
9. Guerin K, Gregory-Evans CY, Hodges MD, Moosajee M, Mackay DS, et al. (2008) Systemic aminoglycoside treatment in rodent models of retinitis pigmentosa. Exp Eye Res 87: 197-207.
10. Martin R, Mogg AE, Heywood LA, Nitschke L, Burke JF (1989) Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells. Mol Gen Genet 217: 411-418.
11. Nilsson M, Ryde ́n-Aulin M (2003) Glutamine is incorporated at the nonsense codons UAG and UAA in a suppressor-free Escherichia coli strain. Biochim Biophys Acta 1627: 1-6.
12. Rowe SM, Varga K, Rab A, Bebok Z, Byram K, et al. (2007) Restoration of W1282X CFTR activity by enhanced expression. Am J Respir Cell Mol Biol 37: 347-356.
13. Wagner KR, Hamed S, Hadley DW, Gropman AL, Burstein AH, et al. (2001) Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations. Ann Neurol 49: 706-711.
14. Pinotti M, Rizzotto L, Pinton P, Ferraresi P, Chuansumrit A, et al. (2006) Intracellular readthrough of nonsense mutations by aminoglycosides in coagulation factor VII. J Thromb Haemost 4: 1308-1314.
15. Brooks DA, Muller VJ, Hopwood JJ (2006) Stop-codon read-through for patients affected by a lysosomal storage disorder. Trends Mol Med 12: 367-373.
16. Lai CH, Chun HH, Nahas SA, Mitui M, Gamo KM, et al. (2004) Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci USA 101: 15676-15681.
17. Wilschanski M, Yahav Y, Yaacov Y, Blau H, Bentur L, et al. (2003) Gentamicininduced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 349: 1433-1441.
18. Sermet-Gaudelus I, Renouil M, Fajac A, Bidou L, Parbaille B, et al. (2007) In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study. BMC Med 5: 5.
19. Kerem E, Hirawat S, Armoni S, Yaakov Y, Shoseyov D, et al. (2008) Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 372: 719-727.
20. Margalit O, Amram H, Amariglio N, Simon AJ, Shaklai S, et al. (2006) BCL6 is regulated by p53 through a response element frequently disrupted in B-cell non- Hodgkin lymphoma. Blood 107: 1599-607.
21. Roos D, Meischl C, de Boer M, Simsek S, Weening RS, et al. (2002) Genetic analysis of patients with leukocyte adhesion deficiency: genomic sequencing reveals otherwise undetectable mutations. Exp Hematol 30: 252-261.
22. Böyum A (1968) Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g. Scand J Clin Lab Invest Suppl 97: 77-89.
23. Falk W, Goodwin RH, Jr., Leonard EJ (1980) A 48-well micro chemotaxis assembly for rapid and accurate measurement of leukocyte migration. J Immunol Methods 33: 239-247.
24. Petersen TK, Bysted BV, Jensen AL (1999) Determination of the adhesive capability of canine polymorphonuclear neutrophil granulocytes using a fluorometric microtiter plate cellular adhesion assay. Vet Immunol Immunopathol 68: 283-291.
25. Sali A, Blundell TL (1993) Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 234: 779-815.
26. Bachar O, Fischer D, Nussinov R, Wolfson HJ (1993) A computer vision based technique for 3-D sequence-independent structural comparison of proteins. Protein Eng 6: 279-288.
27. Pettersen EF, Goddard TD, Huang CC, Couch GS, Greenblatt DM, et al. (2004) UCSF Chimera-a visualization system for exploratory research and analysis. J Comput Chem 25: 1605-1612.
28. Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, et al. (2004) Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 104: 4010-4019.
29. Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, et al. (2008) Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A 146A: 2512-2519.
30. Lorusso F, Kong D, Jalil AK, Sylvestre C, Tan SL, et al. (2006) Preimplantation genetic diagnosis of leukocyte adhesion deficiency type I. Fertil Steril 85: 494.e15-8.
31. Scharffetter-Kochanek K, Lu H, Norman K, van Nood N, Munoz F, et al. (1998) Spontaneous skin ulceration and defective T cell function in CD18 null mice. J Exp Med 188: 119-131.
32. Thomas C, Le Deist F, Cavazzana-Calvo M, Benkerrou M, Haddad E, et al. (1995) Results of allogeneic bone marrow transplantation in patients with leukocyte adhesion deficiency. Blood 86: 1629-1635.
33. Linde L, Kerem B (2008) Introducing sense into nonsense in treatments of human genetic diseases. Trends Genet 24: 552-563.
34. Bidou L, Hatin I, Perez N, Allamand V, Panthier JJ, et al. (2004) Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment. Gene Ther 11: 619-627.
35. Clancy JP, Rowe SM, Bebok Z, Aitken ML, Gibson R, et al. (2007) No detectable improvements in cystic fibrosis transmembrane conductance regulator by nasal aminoglycosides in patients with cystic fibrosis with stop mutations. Am J Respir Cell Mol Biol 37: 57-66.
36. Hynes, RO (1992) Integrins: versatility, modulation and signaling in cell adhesion. Cell 69: 11-25.
37. Hogg N, Stewart MP, Scarth SL, Newton R, Shaw JM, et al. (1999) A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1. J Clin Invest 103: 97-106.
38. Larson, RS, Corbi AL, Berman L, Springer T (1989) Primary structure of the leukocyte function-associated molecule-1 alpha subunit: an integrin with an embedded domain defining a protein superfamily. J Cell Biol 108: 703-712.
39. Anikeeva N, Somersalo K, Sims TN, Thomas VK, Dustin ML, et al. (2005) Distinct role of lymphocyte function-associated antigen-1 in mediating effective cytolytic activity by cytotoxic T lymphocytes. Proc Nat Acad Sci 102: 6437-6442.
40. Nudelman I, Rebibo-Sabbah A, Cherniavsky M, Belakhov V, Hainrichson M, et al. (2009) Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations. J Med Chem 52: 2836-2845.