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Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy

Fortunato, Fernanda, Rossi, Rachele, Falzarano, Maria Sofia, Ferlini, Alessandra·2021·Journal of Clinical Medicine
DOI 10.3390/jcm10040820PMC PMC7922390
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Abstract

Duchenne muscular dystrophy (DMD) is the most common childhood muscular dystrophy affecting ~1:5000 live male births. Following the identification of pathogenic variations in the dystrophin gene in 1986, the underlining genotype/phenotype correlations emerged and the role of the dystrophin protein was elucidated in skeletal, smooth, and cardiac muscles, as well as in the brain. When the dystrophin protein is absent or quantitatively or qualitatively modified, the muscle cannot sustain the stress of repeated contractions. Dystrophin acts as a bridging and anchoring protein between the sarcomere and the sarcolemma, and its absence or reduction leads to severe muscle damage that eventually cannot be repaired, with its ultimate substitution by connective tissue and fat. The advances of an understanding of the molecular pathways affected in DMD have led to the development of many therapeutic strategies that tackle different aspects of disease etiopathogenesis, which have recently led to the first successful approved orphan drugs for this condition. The therapeutic advances in this field have progressed exponentially, with second-generation drugs now entering in clinical trials as gene therapy, potentially providing a further effective approach to the condition.

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Figure 1 Dystrophin isoforms and effect of DMD mutations. (A) Schematic representation of dystrophin isoforms. The picture shows the localization of each promoter along the DMD gene (arrows) and the tissue specificity. (B) The two graphs report the frequency of deletions, duplications, and small mutations as described both in many reports (left graph; [9,10,11] and in a large, Italian DMD gene mutation study recently published by the authors (right graph, [3])). As summarized in the bottom of the panel, the DMD mutations lead to the absence of dystrophin protein, inducing the activation of several biological processes that cause the progressive muscle weakening and loss of ambulation, together with respiratory and cardiac complications.
Figure 1 Dystrophin isoforms and effect of DMD mutations. (A) Schematic representation of dystrophin isoforms. The picture shows the localization of each promoter along the DMD gene (arrows) and the tissue specificity. (B) The two graphs report the frequency of deletions, duplications, and small mutations as described both in many reports (left graph; [9,10,11] and in a large, Italian DMD gene mutation study recently published by the authors (right graph, [3])). As summarized in the bottom of the panel, the DMD mutations lead to the absence of dystrophin protein, inducing the activation of several biological processes that cause the progressive muscle weakening and loss of ambulation, together with respiratory and cardiac complications.CC BY · PubMed Central
Figure 2 Schematic representation of exon skipping in the DMD transcript. (A) In DMD patients, the deletion of exon 50 (light gray block) generates an out-of-frame transcript that contains a premature stop codon, leading to the absence of the dystrophin protein. (B) The skipping of exon 51 using antisense oligonucleotides (AONs) targeting exon 51, such as eteplirsen (Exondys 51; NCT03218995, NCT03985878; NCT03992430; NCT04179409), restores the open reading frame, resulting in the synthesis of a short but functional dystrophin protein.
Figure 2 Schematic representation of exon skipping in the DMD transcript. (A) In DMD patients, the deletion of exon 50 (light gray block) generates an out-of-frame transcript that contains a premature stop codon, leading to the absence of the dystrophin protein. (B) The skipping of exon 51 using antisense oligonucleotides (AONs) targeting exon 51, such as eteplirsen (Exondys 51; NCT03218995, NCT03985878; NCT03992430; NCT04179409), restores the open reading frame, resulting in the synthesis of a short but functional dystrophin protein.CC BY · PubMed Central

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Metadata

Authors
Fortunato, F., Rossi, R., Falzarano, M. S., & Ferlini, A.
Affiliations
Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy
ORCID
Venue
Journal of Clinical Medicine
Publisher
MDPI AG
Published
2021-02-17
Volume
10
Issue
4
Pages
820
ISSN
2077-0383
DOI
10.3390/jcm10040820
PMC
PMC7922390
Cited by
64
References
6
Language
en
Licence
creativecommons.org/licenses/by/4.0/ (vor)

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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How to cite

Cite CoChat for the checks on this page, and the paper for its own findings.

This page
CoChat. (2026). Citation check: Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy. https://app.cochat.ai/papers/10.3390/jcm10040820
The paper
Fortunato, F., Rossi, R., Falzarano, M. S., & Ferlini, A. (2021). Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy. Journal of Clinical Medicine. https://doi.org/10.3390/jcm10040820