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      Antisense Therapy in Neurology

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          Abstract

          Antisense therapy is an approach to fighting diseases using short DNA-like molecules called antisense oligonucleotides. Recently, antisense therapy has emerged as an exciting and promising strategy for the treatment of various neurodegenerative and neuromuscular disorders. Previous and ongoing pre-clinical and clinical trials have provided encouraging early results. Spinal muscular atrophy (SMA), Huntington’s disease (HD), amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD), Fukuyama congenital muscular dystrophy (FCMD), dysferlinopathy (including limb-girdle muscular dystrophy 2B; LGMD2B, Miyoshi myopathy; MM, and distal myopathy with anterior tibial onset; DMAT), and myotonic dystrophy (DM) are all reported to be promising targets for antisense therapy. This paper focuses on the current progress of antisense therapies in neurology.

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          Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation.

          M. Gurney, H. Pu, A Chiu … (1994)
          Mutations of human Cu,Zn superoxide dismutase (SOD) are found in about 20 percent of patients with familial amyotrophic lateral sclerosis (ALS). Expression of high levels of human SOD containing a substitution of glycine to alanine at position 93--a change that has little effect on enzyme activity--caused motor neuron disease in transgenic mice. The mice became paralyzed in one or more limbs as a result of motor neuron loss from the spinal cord and died by 5 to 6 months of age. The results show that dominant, gain-of-function mutations in SOD contribute to the pathogenesis of familial ALS.
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            Predictive identification of exonic splicing enhancers in human genes.

            William G. Fairbrother, Ru-Fang Yeh, Phillip A Sharp … (2002)
            Specific short oligonucleotide sequences that enhance pre-mRNA splicing when present in exons, termed exonic splicing enhancers (ESEs), play important roles in constitutive and alternative splicing. A computational method, RESCUE-ESE, was developed that predicts which sequences have ESE activity by statistical analysis of exon-intron and splice site composition. When large data sets of human gene sequences were used, this method identified 10 predicted ESE motifs. Representatives of all 10 motifs were found to display enhancer activity in vivo, whereas point mutants of these sequences exhibited sharply reduced activity. The motifs identified enable prediction of the splicing phenotypes of exonic mutations in human genes.
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              Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

              J. D. Brook, M. McCurrach, H Harley … (1992)
              Using positional cloning strategies, we have identified a CTG triplet repeat that undergoes expansion in myotonic dystrophy patients. This sequence is highly variable in the normal population. PCR analysis of the interval containing this repeat indicates that unaffected individuals have been 5 and 27 copies. Myotonic dystrophy patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat containing segment up to several kilobase pairs. The CTG repeat is transcribed and is located in the 3' untranslated region of an mRNA that is expressed in tissues affected by myotonic dystrophy. This mRNA encodes a polypeptide that is a member of the protein kinase family.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Pers Med
                Journal ID (iso-abbrev): J Pers Med
                Journal ID (publisher-id): jpm
                Title: Journal of Personalized Medicine
                Publisher: MDPI
                ISSN (Electronic): 2075-4426
                Publication date (Electronic): 02 August 2013
                Publication date Collection: September 2013
                Volume: 3
                Issue: 3
                Pages: 144-176
                Affiliations
                [1 ]Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, 8812-112 St, Edmonton T6G 2H7, Canada; E-Mail: jjlee@ 123456ualberta.ca
                [2 ]The Friends of Garrett Cumming Research and Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, 8812-112 St, Edmonton T6G 2H7, Canada
                Author notes
                [* ]Author to whom correspondence should be addressed; E-Mail: toshifum@ 123456ualberta.ca ; Tel.: +1-780-492-1102; Fax: +1-780-492-1998.
                Article
                Publisher ID: jpm-03-00144
                DOI: 10.3390/jpm3030144
                PMC ID: 4251390
                PubMed ID: 25562650
                SO-VID: 7e29667c-1381-4835-999d-06838854d2ac
                Copyright © © 2013 by the authors; licensee MDPI, Basel, Switzerland.
                License:

                This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license ( http://creativecommons.org/licenses/by/3.0/).

                History
                Date received : 27 May 2013
                Date revision received : 26 July 2013
                Date accepted : 29 July 2013
                Categories
                Subject: Review

                Keywords: duchenne muscular dystrophy (dmd),fukuyama congenital muscular dystrophy (fcmd),myotonic dystrophy (dm),spinal muscular atrophy (sma),huntington’s disease (hd),amyotrophic lateral sclerosis (als),limb-girdle muscular dystrophy 2b (lgmd2b),miyoshi myopathy (mm),distal myopathy with anterior tibial onset (dmat),antisense therapy
                Data availability:
                Keywords: duchenne muscular dystrophy (dmd), fukuyama congenital muscular dystrophy (fcmd), myotonic dystrophy (dm), spinal muscular atrophy (sma), huntington’s disease (hd), amyotrophic lateral sclerosis (als), limb-girdle muscular dystrophy 2b (lgmd2b), miyoshi myopathy (mm), distal myopathy with anterior tibial onset (dmat), antisense therapy

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