Literature DB >> 21976286

Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases.

Kim M Keeling1, David M Bedwell.   

Abstract

Suppression therapy is a treatment strategy for genetic diseases caused by nonsense mutations. This therapeutic approach utilizes pharmacological agents that suppress translation termination at in-frame premature termination codons (PTCs) to restore translation of a full-length, functional polypeptide. The efficiency of various classes of compounds to suppress PTCs in mammalian cells is discussed along with the current limitations of this therapy. We also elaborate on approaches to improve the efficiency of suppression that include methods to enhance the effectiveness of current suppression drugs and the design or discovery of new, more effective suppression agents. Finally, we discuss the role of nonsense-mediated mRNA decay (NMD) in limiting the effectiveness of suppression therapy, and describe tactics that may allow the efficiency of NMD to be modulated in order to enhance suppression therapy.
Copyright © 2011 John Wiley & Sons, Ltd.

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Year:  2011        PMID： 21976286      PMCID： PMC3188951          DOI： 10.1002/wrna.95

Source DB:  PubMed          Journal:  Wiley Interdiscip Rev RNA        ISSN： 1757-7004            Impact factor:   9.957


  93 in total

1.  An mRNA surveillance mechanism that eliminates transcripts lacking termination codons.

Authors:  Pamela A Frischmeyer; Ambro van Hoof; Kathryn O'Donnell; Anthony L Guerrerio; Roy Parker; Harry C Dietz
Journal:  Science       Date:  2002-03-22       Impact factor: 47.728

Review 2.  Therapeutic potential of phosphoinositide 3-kinase inhibitors.

Authors:  Stephen Ward; Yannis Sotsios; James Dowden; Ian Bruce; Peter Finan
Journal:  Chem Biol       Date:  2003-03

3.  Comparison of cytotoxicity of aminoglycoside antibiotics using a panel cellular biotest system.

Authors:  V G Chernikov; S M Terekhov; T B Krokhina; S S Shishkin; T D Smirnova; E A Kalashnikova; N V Adnoral; L B Rebrov; Yu I Denisov-Nikol'skii; V A Bykov
Journal:  Bull Exp Biol Med       Date:  2003-01       Impact factor: 0.804

Review 4.  Overriding standard decoding: implications of recoding for ribosome function and enrichment of gene expression.

Authors:  J F Atkins; P V Baranov; O Fayet; A J Herr; M T Howard; I P Ivanov; S Matsufuji; W A Miller; B Moore; M F Prère; N M Wills; J Zhou; R F Gesteland
Journal:  Cold Spring Harb Symp Quant Biol       Date:  2001

5.  TransTerm, the translational signal database, extended to include full coding sequences and untranslated regions.

Authors:  M E Dalphin; P A Stockwell; W P Tate; C M Brown
Journal:  Nucleic Acids Res       Date:  1999-01-01       Impact factor: 16.971

Review 6.  Translational termination efficiency in both bacteria and mammals is regulated by the base following the stop codon.

Authors:  W P Tate; E S Poole; J A Horsfield; S A Mannering; C M Brown; J G Moffat; M E Dalphin; K K McCaughan; L L Major; D N Wilson
Journal:  Biochem Cell Biol       Date:  1995 Nov-Dec       Impact factor: 3.626

7.  Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system.

Authors:  M Manuvakhova; K Keeling; D M Bedwell
Journal:  RNA       Date:  2000-07       Impact factor: 4.942

8.  Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations.

Authors:  Igor Nudelman; Dana Glikin; Boris Smolkin; Mariana Hainrichson; Valery Belakhov; Timor Baasov
Journal:  Bioorg Med Chem       Date:  2010-03-27       Impact factor: 3.641

9.  Development of novel aminoglycoside (NB54) with reduced toxicity and enhanced suppression of disease-causing premature stop mutations.

Authors:  Igor Nudelman; Annie Rebibo-Sabbah; Marina Cherniavsky; Valery Belakhov; Mariana Hainrichson; Fuquan Chen; Jochen Schacht; Daniel S Pilch; Tamar Ben-Yosef; Timor Baasov
Journal:  J Med Chem       Date:  2009-05-14       Impact factor: 7.446

10.  Nonaminoglycoside compounds induce readthrough of nonsense mutations.

Authors:  Liutao Du; Robert Damoiseaux; Shareef Nahas; Kun Gao; Hailiang Hu; Julianne M Pollard; Jimena Goldstine; Michael E Jung; Susanne M Henning; Carmen Bertoni; Richard A Gatti
Journal:  J Exp Med       Date:  2009-09-21       Impact factor: 14.307
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  46 in total

Review 1.  Hydroxylation and translational adaptation to stress: some answers lie beyond the STOP codon.

Authors:  M J Katz; L Gándara; A L De Lella Ezcurra; P Wappner
Journal:  Cell Mol Life Sci       Date:  2016-02-13       Impact factor: 9.261

2.  Mechanism of premature translation termination on a sense codon.

Authors:  Egor Svidritskiy; Gabriel Demo; Andrei A Korostelev
Journal:  J Biol Chem       Date:  2018-06-25       Impact factor: 5.157

3.  Increased selectivity toward cytoplasmic versus mitochondrial ribosome confers improved efficiency of synthetic aminoglycosides in fixing damaged genes: a strategy for treatment of genetic diseases caused by nonsense mutations.

Authors:  Jeyakumar Kandasamy; Dana Atia-Glikin; Eli Shulman; Katya Shapira; Michal Shavit; Valery Belakhov; Timor Baasov
Journal:  J Med Chem       Date:  2012-11-29       Impact factor: 7.446

4.  When Proteins Start to Make Sense: Fine-tuning Aminoglycosides for PTC Suppression Therapy.

Authors:  Moran Shalev; Timor Baasov
Journal:  Medchemcomm       Date:  2014-08-01       Impact factor: 3.597

5.  The designer aminoglycoside NB84 significantly reduces glycosaminoglycan accumulation associated with MPS I-H in the Idua-W392X mouse.

Authors:  Dan Wang; Valery Belakhov; Jeyakumar Kandasamy; Timor Baasov; Su-Chen Li; Yu-Teh Li; David M Bedwell; Kim M Keeling
Journal:  Mol Genet Metab       Date:  2011-10-19       Impact factor: 4.797

Review 6.  Modulation of efficiency of translation termination in Saccharomyces cerevisiae.

Authors:  Anton A Nizhnikov; Kirill S Antonets; Sergey G Inge-Vechtomov; Irina L Derkatch
Journal:  Prion       Date:  2014-11-01       Impact factor: 3.931

Review 7.  Nonsense-mediated decay in genetic disease: friend or foe?

Authors:  Jake N Miller; David A Pearce
Journal:  Mutat Res Rev Mutat Res       Date:  2014-05-28       Impact factor: 5.657

Review 8.  NMD: a multifaceted response to premature translational termination.

Authors:  Stephanie Kervestin; Allan Jacobson
Journal:  Nat Rev Mol Cell Biol       Date:  2012-10-17       Impact factor: 94.444

9.  Development of generic immunoassay for the detection of a series of aminoglycosides with 6'-OH group for the treatment of genetic diseases in biological samples.

Authors:  Moran Shalev; Jeyakumar Kandasamy; Nir Skalka; Valery Belakhov; Rina Rosin-Arbesfeld; Timor Baasov
Journal:  J Pharm Biomed Anal       Date:  2012-11-20       Impact factor: 3.935

Review 10.  Nonsense-mediated mRNA decay: inter-individual variability and human disease.

Authors:  Lam Son Nguyen; Miles F Wilkinson; Jozef Gecz
Journal:  Neurosci Biobehav Rev       Date:  2013-11-14       Impact factor: 8.989
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