Clinical doses of amikacin provide more effective suppression of the human CFTR-G542X stop mutation than gentamicin in a transgenic CF mouse model

Springer Science and Business Media LLC - Tập 84 Số 7 - Trang 573-582 - 2006
Ming Du1, Kim M. Keeling1, Liming Fan1, Xiaoli Liu1, T. Kovács2, Eric J. Sorscher2, David M. Bedwell1
1Department of Microbiology, The University of Alabama at Birmingham, Birmingham, USA
2Department of Physiology and Biophysics, University of Alabama at Birmingham, Birmingham, USA

Tóm tắt

Từ khóa


Tài liệu tham khảo

Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, Cooper DN (2000) Human gene mutation database—a biomedical information and research resource. Hum Mutat 15:45–51

Fearon K, McClendon V, Bonetti B, Bedwell DM (1994) Premature translation termination mutations are efficiently suppressed in a highly conserved region of yeast Ste6p, a member of the ATP-binding cassette (ABC) transporter family. J Biol Chem 269:17802–17808

Bonetti B, Fu L, Moon J, Bedwell DM (1995) The efficiency of translation termination is determined by a synergistic interplay between upstream and downstream sequences in Saccharomyces cerevisiae. J Mol Biol 251:334–345

Manuvakhova M, Keeling K, Bedwell DM (2000) Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system. RNA 6:1044–1055

Keeling KM, Bedwell DM (2002) Clinically relevant aminoglycosides can suppress disease-associated premature stop mutations in the IDUA and P53 cDNAs in a mammalian translation system. J Mol Med 80:367–376

Zsembery A, Jessner W, Sitter G, Spirli C, Strazzabosco M, Graf J (2002) Correction of CFTR malfunction and stimulation of Ca-activated Cl channels restore HCO3- secretion in cystic fibrosis bile ductular cells. Hepatology 35:95–104

Howard MT, Shirts BH, Petros LM, Flanigan KM, Gesteland RF, Atkins JF (2000) Sequence specificity of aminoglycoside-induced stop codon readthrough: potential implications for treatment of Duchenne muscular dystrophy. Ann Neurol 48:164–169

Howard M, Frizzell RA, Bedwell DM (1996) Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations. Nat Med 2:467–469

Bedwell DM, Kaenjak A, Benos DJ, Bebok Z, Bubien JK, Hong J, Tousson A, Clancy JP, Sorscher EJ (1997) Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line. Nat Med 3:1280–1284

Barton-Davis ER, Cordier L, Shoturma DI, Leland SE, Sweeney HL (1999) Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 104:375–381

Sleat DE, Sohar I, Gin RM, Lobel P (2001) Aminoglycoside-mediated suppression of nonsense mutations in late infantile neuronal ceroid lipofuscinosis. Eur J Paediatr Neurol 5(Suppl A):57–62

Keeling KM, Brooks DA, Hopwood JJ, Li P, Thompson JN, Bedwell DM (2001) Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-l-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation. Hum Mol Genet 10:291–299

Hein LK, Bawden M, Muller VJ, Sillence D, Hopwood JJ, Brooks DA (2004) Alpha-l-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J Mol Biol 338:453–462

Sossi V, Giuli A, Vitali T, Tiziano F, Mirabella M, Antonelli A, Neri G, Brahe C (2001) Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. Eur J Hum Genet 9:113–120

Schulz A, Sangkuhl K, Lennert T, Wigger M, Price DA, Nuuja A, Gruters A, Schultz G, Schoneberg T (2002) Aminoglycoside pretreatment partially restores the function of truncated V(2) vasopressin receptors found in patients with nephrogenic diabetes insipidus. J Clin Endocrinol Metab 87:5247–5257

Helip-Wooley A, Park MA, Lemons RM, Thoene JG (2002) Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro. Mol Genet Metab 75:128–133

Wolstencroft EC, Mattis V, Bajer AA, Young PJ, Lorson CL (2005) A non-sequence-specific requirement for SMN protein activity: the role of aminoglycosides in inducing elevated SMN protein levels. Hum Mol Genet 14:1199–1210

Lai CH, Chun HH, Nahas SA, Mitui M, Gamo KM, Du L, Gatti RA (2004) Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons. Proc Natl Acad Sci USA 101:15676–15681

Aguiari G, Banzi M, Gessi S, Cai Y, Zeggio E, Manzati E, Piva R, Lambertini E, Ferrari L, Peters DJ, Lanza F, Harris PC, Borea PA, Somlo S, Del Senno L (2004) Deficiency of polycystin-2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells. FASEB J 18:884–886

Du M, Jones JR, Lanier J, Keeling KM, Lindsey JR, Tousson A, Bebok Z, Whitsett JA, Dey CR, Colledge WH, Evans MJ, Sorscher EJ, Bedwell DM (2002) Aminoglycoside suppression of a premature stop mutation in a Cftr−/− mouse carrying a human CFTR-G542X transgene. J Mol Med 80:595–604

Politano L, Nigro G, Nigro V, Piluso G, Papparella S, Paciello O, Comi LI (2003) Gentamicin administration in Duchenne patients with premature stop codon. Preliminary results. Acta Myol 22:15–21

Wilschanski M, Yahav Y, Yaacov Y, Blau H, Bentur L, Rivlin J, Aviram M, Bdolah-Abram T, Bebok Z, Shushi L, Kerem B, Kerem E (2003) Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 349:1433–1441

Wilschanski M, Famini C, Blau H, Rivlin J, Augarten A, Avital A, Kerem B, Kerem E (2000) A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations. Am J Respir Crit Care Med 161:860–865

Clancy JP, Bebok Z, Ruiz F, King C, Jones J, Walker L, Greer H, Hong J, Wing L, Macaluso M, Lyrene R, Sorscher EJ, Bedwell DM (2001) Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med 163:1683–1692

Snouwaert JN, Brigman KK, Latour AM, Malouf NN, Boucher RC, Smithies O, Koller BH (1992) An animal model for cystic fibrosis made by gene targeting. Science 257:1083–1088

Koerner TJ, Hill JE, Myers AM, Tzagoloff A (1991) High-expression vectors with multiple cloning sites for construction of trpE fusion genes: pATH vectors. Methods Enzymol 194:477–490

Dawson DC (1977) Na and Cl transport across the isolated turtle colon: parallel pathways for transmural ion movement. J Membr Biol 37:213–233

Arky R (1996) Physicians’ desk reference. Medical economics, Montvale, NJ

Beauchamp D, Labrecque G (2001) Aminoglycoside nephrotoxicity: do time and frequency of administration matter? Curr Opin Crit Care 7:401–408

Nagai J, Takano M (2004) Molecular aspects of renal handling of aminoglycosides and strategies for preventing the nephrotoxicity. Drug Metab Pharmacokinet 19:159–170

Mingeot-Leclercq MP, Tulkens PM (1999) Aminoglycosides: nephrotoxicity. Antimicrob Agents Chemother 43:1003–1012

Laurent G, Carlier MB, Rollman B, Van Hoof F, Tulkens P (1982) Mechanism of aminoglycoside-induced lysosomal phospholipidosis: in vitro and in vivo studies with gentamicin and amikacin. Biochem Pharmacol 31:3861–3870

De Broe ME, Paulus GJ, Verpooten GA, Roels F, Buyssens N, Wedeen R, Van Hoof F, Tulkens PM (1984) Early effects of gentamicin, tobramycin, and amikacin on the human kidney. Kidney Int 25:643–652

Carlier MB, Laurent G, Claes PJ, Vanderhaeghe HJ, Tulkens PM (1983) Inhibition of lysosomal phospholipases by aminoglycoside antibiotics: in vitro comparative studies. Antimicrob Agents Chemother 23:440–449

Lynch SR, Puglisi JD (2001) Structure of a eukaryotic decoding region A-site RNA. J Mol Biol 306:1023–1035

Yoshizawa S, Fourmy D, Puglisi JD (1998) Structural origins of gentamicin antibiotic action. EMBO J 17:6437–6448

Kohlhepp SJ, Loveless MO, Kohnen PW, Houghton DC, Bennett WM, Gilbert DN (1984) Nephrotoxicity of the constituents of the gentamicin complex. J Infect Dis 149:605–614

Kobayashi M, Umemura M, Sone M, Nakashima T (2003) Differing effects on the inner ear of three gentamicin compounds: GM-C1, -C2 and -C1a. Acta Otolaryngol 123:916–922

Isoherranen N, Lavy E, Soback S (2000) Pharmacokinetics of gentamicin C(1), C(1a), and C(2) in beagles after a single intravenous dose. Antimicrob Agents Chemother 44:1443–1447

Bartal C, Danon A, Schlaeffer F, Reisenberg K, Alkan M, Smoliakov R, Sidi A, Almog Y (2003) Pharmacokinetic dosing of aminoglycosides: a controlled trial. Am J Med 114:194–198

Mazzon E, Britti D, De Sarro A, Caputi AP, Cuzzocrea S (2001) Effect of N-acetylcysteine on gentamicin-mediated nephropathy in rats. Eur J Pharmacol 424:75–83

Kawamoto K, Sha SH, Minoda R, Izumikawa M, Kuriyama H, Schacht J, Raphael Y (2004) Antioxidant gene therapy can protect hearing and hair cells from ototoxicity. Mol Ther 9:173–181

Nakashima T, Teranishi M, Hibi T, Kobayashi M, Umemura M (2000) Vestibular and cochlear toxicity of aminoglycosides–a review. Acta Otolaryngol 120:904–911

Sener G, Sehirli AO, Altunbas HZ, Ersoy Y, Paskaloglu K, Arbak S, Ayanoglu-Dulger G (2002) Melatonin protects against gentamicin-induced nephrotoxicity in rats. J Pineal Res 32:231–236

Beauchamp D, Laurent G, Maldague P, Abid S, Kishore BK, Tulkens PM (1990) Protection against gentamicin-induced early renal alterations (phospholipidosis and increased DNA synthesis) by coadministration of poly-l-aspartic acid. J Pharmacol Exp Ther 255:858–866

Gilbert DN, Wood CA, Kohlhepp SJ, Kohnen PW, Houghton DC, Finkbeiner HC, Lindsley J, Bennett WM (1989) Polyaspartic acid prevents experimental aminoglycoside nephrotoxicity. J Infect Dis 159:945–953

Thibault N, Grenier L, Simard M, Bergeron MG, Beauchamp D (1994) Attenuation by daptomycin of gentamicin-induced experimental nephrotoxicity. Antimicrob Agents Chemother 38:1027–1035

Thibault N, Grenier L, Simard M, Bergeron MG, Beauchamp D (1995) Protection against gentamicin nephrotoxicity by daptomycin in nephrectomized rats. Life Sci 56:1877–1887

Ramalho AS, Beck S, Meyer M, Penque D, Cutting GR, Amaral MD (2002) Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis. Am J Respir Cell Mol Biol 27:619–627

Kerem E (2004) Pharmacologic therapy for stop mutations: how much CFTR activity is enough? Curr Opin Pulm Med 10:547–552