Literature DB >> 28376341

Myotonic dystrophy: approach to therapy.

Charles A Thornton1, Eric Wang2, Ellie M Carrell3.   

Abstract

Myotonic dystrophy (DM) is a dominantly-inherited genetic disorder affecting skeletal muscle, heart, brain, and other organs. DM type 1 is caused by expansion of a CTG triplet repeat in DMPK, whereas DM type 2 is caused by expansion of a CCTG tetramer repeat in CNBP. In both cases the DM mutations lead to expression of dominant-acting RNAs. Studies of RNA toxicity have now revealed novel mechanisms and new therapeutic targets. Preclinical data have suggested that RNA dominance is responsive to therapeutic intervention and that DM therapy can be approached at several different levels. Here we review recent efforts to alleviate RNA toxicity in DM.
Copyright © 2017 Elsevier Ltd. All rights reserved.

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Year:  2017        PMID： 28376341      PMCID： PMC5447481          DOI： 10.1016/j.gde.2017.03.007

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN： 0959-437X            Impact factor:   5.578


  65 in total

1.  Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.

Authors:  B M Davis; M E McCurrach; K L Taneja; R H Singer; D E Housman
Journal:  Proc Natl Acad Sci U S A       Date:  1997-07-08       Impact factor: 11.205

2.  Cytoplasmic and nuclear retained DMPK mRNAs are targets for RNA interference in myotonic dystrophy cells.

Authors:  Marc-André Langlois; Christelle Boniface; Gang Wang; Jessica Alluin; Paul M Salvaterra; Jack Puymirat; John J Rossi; Nan Sook Lee
Journal:  J Biol Chem       Date:  2005-02-18       Impact factor: 5.157

3.  GSK3β mediates muscle pathology in myotonic dystrophy.

Authors:  Karlie Jones; Christina Wei; Polina Iakova; Enrico Bugiardini; Christiane Schneider-Gold; Giovanni Meola; James Woodgett; James Killian; Nikolai A Timchenko; Lubov T Timchenko
Journal:  J Clin Invest       Date:  2012-11-19       Impact factor: 14.808

4.  Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.

Authors:  J W Miller; C R Urbinati; P Teng-Umnuay; M G Stenberg; B J Byrne; C A Thornton; M S Swanson
Journal:  EMBO J       Date:  2000-09-01       Impact factor: 11.598

5.  Precise small-molecule recognition of a toxic CUG RNA repeat expansion.

Authors:  Suzanne G Rzuczek; Lesley A Colgan; Yoshio Nakai; Michael D Cameron; Denis Furling; Ryohei Yasuda; Matthew D Disney
Journal:  Nat Chem Biol       Date:  2016-12-12       Impact factor: 15.040

6.  RNA interference targeting CUG repeats in a mouse model of myotonic dystrophy.

Authors:  Krzysztof Sobczak; Thurman M Wheeler; Wenli Wang; Charles A Thornton
Journal:  Mol Ther       Date:  2012-11-27       Impact factor: 11.454

7.  New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats.

Authors:  François-Xavier Laurent; Alain Sureau; Arnaud F Klein; François Trouslard; Erwan Gasnier; Denis Furling; Joëlle Marie
Journal:  Nucleic Acids Res       Date:  2011-12-09       Impact factor: 16.971

8.  DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1.

Authors:  Olof J Pettersson; Lars Aagaard; Diana Andrejeva; Rune Thomsen; Thomas G Jensen; Christian K Damgaard
Journal:  Nucleic Acids Res       Date:  2014-05-03       Impact factor: 16.971

9.  Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.

Authors:  K L Taneja; M McCurrach; M Schalling; D Housman; R H Singer
Journal:  J Cell Biol       Date:  1995-03       Impact factor: 10.539

10.  The rates of the major steps in the molecular mechanism of RNase H1-dependent antisense oligonucleotide induced degradation of RNA.

Authors:  Timothy A Vickers; Stanley T Crooke
Journal:  Nucleic Acids Res       Date:  2015-09-17       Impact factor: 16.971
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  40 in total

1.  Chronic exercise mitigates disease mechanisms and improves muscle function in myotonic dystrophy type 1 mice.

Authors:  Alexander Manta; Derek W Stouth; Donald Xhuti; Leon Chi; Irena A Rebalka; Jayne M Kalmar; Thomas J Hawke; Vladimir Ljubicic
Journal:  J Physiol       Date:  2019-01-30       Impact factor: 5.182

2.  Selective alkylation of T-T mismatched DNA using vinyldiaminotriazine-acridine conjugate.

Authors:  Kazumitsu Onizuka; Akira Usami; Yudai Yamaoki; Tomohito Kobayashi; Madoka E Hazemi; Tomoko Chikuni; Norihiro Sato; Kaname Sasaki; Masato Katahira; Fumi Nagatsugi
Journal:  Nucleic Acids Res       Date:  2018-02-16       Impact factor: 16.971

Review 3.  Post-transcriptional regulation of gene expression and human disease.

Authors:  Anita H Corbett
Journal:  Curr Opin Cell Biol       Date:  2018-03-06       Impact factor: 8.382

Review 4.  Gene Editing and Gene-Based Therapeutics for Cardiomyopathies.

Authors:  Joyce C Ohiri; Elizabeth M McNally
Journal:  Heart Fail Clin       Date:  2018-04       Impact factor: 3.179

Review 5.  On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.

Authors:  Alexandra N Khristich; Sergei M Mirkin
Journal:  J Biol Chem       Date:  2020-02-14       Impact factor: 5.157

6.  Structural Basis for Targeting T:T Mismatch with Triaminotriazine-Acridine Conjugate Induces a U-Shaped Head-to-Head Four-Way Junction in CTG Repeat DNA.

Authors:  Ching-Ming Chien; Pei-Ching Wu; Roshan Satange; Cheng-Chung Chang; Zi-Lun Lai; Lauren D Hagler; Steven C Zimmerman; Ming-Hon Hou
Journal:  J Am Chem Soc       Date:  2020-06-16       Impact factor: 15.419

Review 7.  Targeting RNA in mammalian systems with small molecules.

Authors:  Anita Donlic; Amanda E Hargrove
Journal:  Wiley Interdiscip Rev RNA       Date:  2018-05-03       Impact factor: 9.957

8.  Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3'UTR RNA.

Authors:  Ramesh S Yadava; Qing Yu; Mahua Mandal; Frank Rigo; C Frank Bennett; Mani S Mahadevan
Journal:  Hum Mol Genet       Date:  2020-06-03       Impact factor: 6.150

9.  Expanded DNA and RNA Trinucleotide Repeats in Myotonic Dystrophy Type 1 Select Their Own Multitarget, Sequence-Selective Inhibitors.

Authors:  Lauren D Hagler; Long M Luu; Marco Tonelli; JuYeon Lee; Samuel M Hayes; Sarah E Bonson; J Ignacio Vergara; Samuel E Butcher; Steven C Zimmerman
Journal:  Biochemistry       Date:  2020-09-10       Impact factor: 3.162

Review 10.  Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.

Authors:  Samantha LoRusso; Benjamin Weiner; W David Arnold
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620
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