Duchenne Muscular Dystrophy
A Molecular Approach
DOI:
https://doi.org/10.48797/sl.2023.113Keywords:
Duchenne muscular dystrophy, X-linked disease, dystrophin, distrophin-associated protein complexAbstract
Duchenne Muscular Dystrophy (DMD) is an X-linked recessive congenital myopathy, with a low prevalence but a high mortality rate. It is due to different mutations of the DMD gene, the largest gene of the human genome, and leads to the production of a non-functional dystrophin, a fundamental protein responsible for muscle integrity. DMD is transmitted by female carriers and is characterized by a generalized progressive muscular dystrophy and weakness in males, being fatal before the age of 20 years due to cardiorespiratory failure. The aim of this study was to perform an integrative systematic review about the effect of interventions on DMD mutations of the information available in randomized studies with non-randomized studies. A research protocol was designed following the PICO methodology. Bibliography eligibility criteria were defined to answer the PICO’s question. Three independent searches were performed, namely in Cochrane, PubMed and Google. The data collection methodology used eligibility criteria. To extract information, five variables have been parameterized. Fifty-four papers were included in this integrative systematic review. Because scientists have succeeded in locating DNA errors and mutations with increasingly precise technologies, we are now able to develop new therapies that make it possible to avoid, bypass or edit the mutated DNA. There is information in non-randomized studies on the effect of interventions on DMD mutations. There are few therapies available for DMD mutations. Combining information from non-randomized studies with information available from randomized studies on the effect of interventions on DMD mutations, DNA analyses and advances in biomolecular science are confirmed and represent the basis of therapies with a direct impact on the predictability of disease progression.
References
Online Mendelian Inheritance in Man. Muscular Dystrophy, Duchenne Type; DMD #310200. Availabe online: https://www.omim.org/entry/310200?search=duchenne&highlight=duchenne#title (accessed on 12 December 2023).
Al Mosawi, A.J. Semmola-Meryon-Duchenne Syndrome: Possible Therapeutic Role of Nutritional Supplements. Open J Nutr Food Sci 2019, 1, 1005.
Emery, A.E.; Emery, M.; Swash, M.; Mikol, J.; Walusinski, O.; Goebel, H.H. 20th Anniversary Meeting of the Meryon Society Worcester College, Oxford. Neuromuscul Disord 2017, 27, 298-303, doi:10.1016/j.nmd.2016.11.016.
Duchenne, G.B. Paraplegie hypertrophique de l’enfance de cause cerebrale; J.-B. Baillière et Fils: Paris, 1861.
Duchenne, G.B. Album de Photographies Pathologiques, Complémentaire du livre intitulé "De l'électrisation localisée"; J.-B. Baillière et Fils: Paris, 1862.
Jay, V.; Vajsar, J. The dystrophy of Duchenne. Lancet 2001, 357, 550-552, doi:10.1016/S0140-6736(00)04052-6.
Crisafulli, S.; Sultana, J.; Fontana, A.; Salvo, F.; Messina, S.; Trifiro, G. Global epidemiology of Duchenne muscular dystrophy: an updated systematic review and meta-analysis. Orphanet J Rare Dis 2020, 15, 141, doi:10.1186/s13023-020-01430-8.
Salari, N.; Fatahi, B.; Valipour, E.; Kazeminia, M.; Fatahian, R.; Kiaei, A.; Shohaimi, S.; Mohammadi, M. Global prevalence of Duchenne and Becker muscular dystrophy: a systematic review and meta-analysis. J Orthop Surg Res 2022, 17, 96, doi:10.1186/s13018-022-02996-8.
Broomfield, J.; Hill, M.; Guglieri, M.; Crowther, M.; Abrams, K. Life Expectancy in Duchenne Muscular Dystrophy: Reproduced Individual Patient Data Meta-analysis. Neurology 2021, 97, e2304-e2314, doi:10.1212/WNL.0000000000012910.
Duchenne, G.B. De la paralysie musculaire pseudo-hypertrophique, ou paralysie myo-sclérosique Asselin, P., Ed. Archives Générales de Médecine: Paris, 1868.
Mirovsky, Y.; Copeliovich, L.; Halperin, N. Gowers' sign in children with discitis of the lumbar spine. J Pediatr Orthop B 2005, 14, 68-70, doi:10.1097/01202412-200503000-00002.
National Institute of Neurological Disorders and Stroke. Muscular Dystrophy: Hope Through Research. Availabe online: https://www.ninds.nih.gov/health-information/patient-caregiver-education/hope-through-research/muscular-dystrophy-hope-through-research (accessed on 22 January 2023).
Birnkrant, D.J.; Bushby, K.; Bann, C.M.; Apkon, S.D.; Blackwell, A.; Brumbaugh, D.; Case, L.E.; Clemens, P.R.; Hadjiyannakis, S.; Pandya, S., et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol 2018, 17, 251-267, doi:10.1016/S1474-4422(18)30024-3.
Bushby, K.; Finkel, R.; Birnkrant, D.J.; Case, L.E.; Clemens, P.R.; Cripe, L.; Kaul, A.; Kinnett, K.; McDonald, C.; Pandya, S., et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010, 9, 77-93, doi:10.1016/S1474-4422(09)70271-6.
Darras, B.T.; Royden Jones Jr., H.; Ryan, M.M.; De Vivo, D.C. Introduction: Historical Perspectives. In Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach, Elsevier Inc.: 2015; https://doi.org/10.1016/C2013-0-00077-1.
Tidball, J.G. Mechanisms of muscle injury, repair, and regeneration. Compr Physiol 2011, 1, 2029-2062, doi:10.1002/cphy.c100092.
Anderson, J.E.; McIntosh, L.M.; Poettcker, R. Deflazacort but not prednisone improves both muscle repair and fiber growth in diaphragm and limb muscle in vivo in the mdx dystrophic mouse. Muscle Nerve 1996, 19, 1576-1585, doi:10.1002/(SICI)1097-4598(199612)19:12<1576::AID-MUS7>3.0.CO;2-7.
Yiu, E.M.; Kornberg, A.J. Duchenne muscular dystrophy. J Paediatr Child Health 2015, 51, 759-764, doi:10.1111/jpc.12868.
Reeves, B.C.; Deeks, J.J.; Higgins, J.P.T.; Shea, B.; Tugwell, P.; Wells, G.A. Including non‐randomized studies on intervention effects. In Cochrane Handbook for Systematic Reviews of Interventions, 2nd ed.; John Wiley & Sons: Chichester (UK), 2019; pp. 595-620.
Moher, D.; Schulz, K.F.; Altman, D.G. The CONSORT statement: revised recommendations for improving the quality of reports of parallel-group randomised trials. Lancet 2001, 357, 1191-1194.
Klug, W.S.; Cummings, M.R.; Spencer, C.A.; Palladino, M.A.; Killian, D. Concepts of Genetics, 11th ed.; Pearson Education: 2014.
National Center for Biotechnology Information. DMD dystrophin [Homo sapiens (human)] Gene ID: 1756. Availabe online: https://www.ncbi.nlm.nih.gov/gene/1756 (accessed on 22 January 2023).
The Human Protein Atlas. DMD protein - Tissue expression Availabe online: https://www.proteinatlas.org/ENSG00000198947-DMD/tissue (accessed on 22 January 2023).
Blake, D.J.; Weir, A.; Newey, S.E.; Davies, K.E. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002, 82, 291-329, doi:10.1152/physrev.00028.2001.
Doorenweerd, N.; Mahfouz, A.; van Putten, M.; Kaliyaperumal, R.; PAC, T.H.; Hendriksen, J.G.M.; Aartsma-Rus, A.M.; Verschuuren, J.; Niks, E.H.; Reinders, M.J.T., et al. Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy. Sci Rep 2017, 7, 12575, doi:10.1038/s41598-017-12981-5.
Allen, D.G.; Whitehead, N.P.; Froehner, S.C. Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy. Physiol Rev 2016, 96, 253-305, doi:10.1152/physrev.00007.2015.
Cooper, G.M.; Hausman, R.E. The Cell: A Molecular Approach, 4th ed.; Sinauer: 2006.
Gao, Q.Q.; McNally, E.M. The Dystrophin Complex: Structure, Function, and Implications for Therapy. Compr Physiol 2015, 5, 1223-1239, doi:10.1002/cphy.c140048.
Endo, T. Dystroglycan glycosylation and its role in alpha-dystroglycanopathies. Acta Myol 2007, 26, 165-170.
Ervasti, J.M.; Sonnemann, K.J. Biology of the striated muscle dystrophin-glycoprotein complex. Int Rev Cytol 2008, 265, 191-225, doi:10.1016/S0074-7696(07)65005-0.
National Cancer Institute. X-linked recessive inheritance. Availabe online: https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/x-linked-recessive-inheritance (accessed on 22 January 2023).
van Essen, A.J.; Kneppers, A.L.; van der Hout, A.H.; Scheffer, H.; Ginjaar, I.B.; ten Kate, L.P.; van Ommen, G.J.; Buys, C.H.; Bakker, E. The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol. J Med Genet 1997, 34, 805-812, doi:10.1136/jmg.34.10.805.
Bladen, C.L.; Salgado, D.; Monges, S.; Foncuberta, M.E.; Kekou, K.; Kosma, K.; Dawkins, H.; Lamont, L.; Roy, A.J.; Chamova, T., et al. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum Mutat 2015, 36, 395-402, doi:10.1002/humu.22758.
Expasy - Swiss Institute of Bioinformatics. UniProtKB/Swiss-Prot P11532: Variants. Availabe online: https://www.uniprot.org/uniprotkb/P11532/entry#disease_variants (accessed on 22 January 2023).
Juan-Mateu, J.; Gonzalez-Quereda, L.; Rodriguez, M.J.; Baena, M.; Verdura, E.; Nascimento, A.; Ortez, C.; Baiget, M.; Gallano, P. DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations. PLoS One 2015, 10, e0135189, doi:10.1371/journal.pone.0135189.
Happi Mbakam, C.; Lamothe, G.; Tremblay, J.P. Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy. Front Med (Lausanne) 2022, 9, 859930, doi:10.3389/fmed.2022.859930.
National Human Genome Research Institute. Talking Glossary of Genomic and Genetic Terms. Availabe online: https://www.genome.gov/genetics-glossary (accessed on 22 January 2023).
Jukes, T.H. Transitions, transversions, and the molecular evolutionary clock. J Mol Evol 1987, 26, 87-98, doi:10.1007/BF02111284.
Berget, S.M. Exon recognition in vertebrate splicing. J Biol Chem 1995, 270, 2411-2414, doi:10.1074/jbc.270.6.2411.
Trabelsi, M.; Beugnet, C.; Deburgrave, N.; Commere, V.; Orhant, L.; Leturcq, F.; Chelly, J. When a mid-intronic variation of DMD gene creates an ESE site. Neuromuscul Disord 2014, 24, 1111-1117, doi:10.1016/j.nmd.2014.07.003.
Nussbaum, R.L.; McInnes, R.R.; Willard, H.F. Thompson & Thompson Genetics in Medicine; Elsevier Inc., Ed. Thompson & Thompson: Philadelphia, 2016.
Duan, D.; Goemans, N.; Takeda, S.; Mercuri, E.; Aartsma-Rus, A. Duchenne muscular dystrophy. Nat Rev Dis Primers 2021, 7, 13, doi:10.1038/s41572-021-00248-3.
Timpani, C.A.; Hayes, A.; Rybalka, E. Therapeutic strategies to address neuronal nitric oxide synthase deficiency and the loss of nitric oxide bioavailability in Duchenne Muscular Dystrophy. Orphanet J Rare Dis 2017, 12, 100, doi:10.1186/s13023-017-0652-y.
van Westering, T.L.; Betts, C.A.; Wood, M.J. Current understanding of molecular pathology and treatment of cardiomyopathy in duchenne muscular dystrophy. Molecules 2015, 20, 8823-8855, doi:10.3390/molecules20058823.
Mosca, N.; Petrillo, S.; Bortolani, S.; Monforte, M.; Ricci, E.; Piemonte, F.; Tasca, G. Redox Homeostasis in Muscular Dystrophies. Cells 2021, 10, doi:10.3390/cells10061364.
Verhaart, I.E.C.; Aartsma-Rus, A. Therapeutic developments for Duchenne muscular dystrophy. Nat Rev Neurol 2019, 15, 373-386, doi:10.1038/s41582-019-0203-3.
Lu, X.; Han, C.; Mai, J.; Jiang, X.; Liao, J.; Hou, Y.; Cui, D. Novel Intronic Mutations Introduce Pseudoexons in DMD That Cause Muscular Dystrophy in Patients. Front Genet 2021, 12, 657040, doi:10.3389/fgene.2021.657040.
Wehling-Henricks, M.; Oltmann, M.; Rinaldi, C.; Myung, K.H.; Tidball, J.G. Loss of positive allosteric interactions between neuronal nitric oxide synthase and phosphofructokinase contributes to defects in glycolysis and increased fatigability in muscular dystrophy. Hum Mol Genet 2009, 18, 3439-3451, doi:10.1093/hmg/ddp288.
Loboda, A.; Dulak, J. Muscle and cardiac therapeutic strategies for Duchenne muscular dystrophy: past, present, and future. Pharmacol Rep 2020, 72, 1227-1263, doi:10.1007/s43440-020-00134-x.
European Medicines Agency. EU/3/05/278: Orphan designation for the treatment of Duchenne muscular dystrophy. Vol. EMA/423254/2018. Availabe online: https://www.ema.europa.eu/en/medicines/human/orphan-designations/eu305278 (accessed on 23 January 2023).
Bowles, D.E.; McPhee, S.W.; Li, C.; Gray, S.J.; Samulski, J.J.; Camp, A.S.; Li, J.; Wang, B.; Monahan, P.E.; Rabinowitz, J.E., et al. Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector. Mol Ther 2012, 20, 443-455, doi:10.1038/mt.2011.237.
Quattrocelli, M.; Zelikovich, A.S.; Salamone, I.M.; Fischer, J.A.; McNally, E.M. Mechanisms and Clinical Applications of Glucocorticoid Steroids in Muscular Dystrophy. J Neuromuscul Dis 2021, 8, 39-52, doi:10.3233/JND-200556.
Himic, V.; Davies, K.E. Evaluating the potential of novel genetic approaches for the treatment of Duchenne muscular dystrophy. Eur J Hum Genet 2021, 29, 1369-1376, doi:10.1038/s41431-021-00811-2.
Pichavant, C.; Aartsma-Rus, A.; Clemens, P.R.; Davies, K.E.; Dickson, G.; Takeda, S.; Wilton, S.D.; Wolff, J.A.; Wooddell, C.I.; Xiao, X., et al. Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol Ther 2011, 19, 830-840, doi:10.1038/mt.2011.59.
Ricotti, V.; Kadirvelu, B.; Selby, V.; Festenstein, R.; Mercuri, E.; Voit, T.; Faisal, A.A. Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy. Nat Med 2023, 29, 95-103, doi:10.1038/s41591-022-02045-1.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2023 Marie Maziere, Paulo Rompante
This work is licensed under a Creative Commons Attribution 4.0 International License.
In Scientific Letters, articles are published under a CC-BY license (Creative Commons Attribution 4.0 International License), the most open license available. The users can share (copy and redistribute the material in any medium or format) and adapt (remix, transform, and build upon the material for any purpose, even commercially), as long as they give appropriate credit, provide a link to the license, and indicate if changes were made (read the full text of the license terms and conditions of use).
The author is the owner of the copyright.
