Duchenne muscular dystrophy: disease mechanism and therapeutic strategies

Angulski, Addeli Bez Batti; Hosny, Nora; Cohen, Houda; Martin, Ashley A.; Hahn, Dongwoo; Bauer, Jan; Metzger, Joseph M.

doi:10.3389/fphys.2023.1183101

Cited by 21 publications

(17 citation statements)

References 423 publications

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“…This finding is particularly noteworthy because PTC bypass can have profound implications for both normal cellular functioning and disease state, where a nonsense mutation can lead to aberrant protein synthesis. Conditions such as Duchenne Muscular Dystrophy (DMD) [ 56 , 57 ], Cystic Fibrosis [ 58 ], Beta-Thalassemia [ 59 ], Spinal Muscular Atrophy (SMA) [ 60 ], Hurler Syndrome [ 61 ], Ataxia Telangiectasia [ 62 ], and certain form of cancer [ 63 ] are prime examples. In these diseases, PTCs lead to the synthesis of truncated, typically non-functional proteins.…”

Section: Discussionmentioning

confidence: 99%

The Involvement of YNR069C in Protein Synthesis in the Baker’s Yeast, Saccharomyces cerevisiae

Takallou,

Hajikarimlou,

Al-gafari

et al. 2024

Biology

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Maintaining translation fidelity is a critical step within the process of gene expression. It requires the involvement of numerous regulatory elements to ensure the synthesis of functional proteins. The efficient termination of protein synthesis can play a crucial role in preserving this fidelity. Here, we report on investigating a protein of unknown function, YNR069C (also known as BSC5), for its activity in the process of translation. We observed a significant increase in the bypass of premature stop codons upon the deletion of YNR069C. Interestingly, the genomic arrangement of this ORF suggests a compatible mode of expression reliant on translational readthrough, incorporating the neighboring open reading frame. We also showed that the deletion of YNR069C results in an increase in the rate of translation. Based on our results, we propose that YNR069C may play a role in translation fidelity, impacting the overall quantity and quality of translation. Our genetic interaction analysis supports our hypothesis, associating the role of YNR069C to the regulation of protein synthesis.

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Section: Discussionmentioning

confidence: 99%

The Involvement of YNR069C in Protein Synthesis in the Baker’s Yeast, Saccharomyces cerevisiae

Takallou,

Hajikarimlou,

Al-gafari

et al. 2024

Biology

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“…Many patients with DMD now have an increased life expectancy as a result of medical interventions. Consequently, there are an increasing number of adolescent DMD patients transitioning from paediatricto adult-oriented healthcare [7][8][9][10][11].…”

Section: Discussionmentioning

confidence: 99%

“…The improvement in supportive care and the extensive and early use of corticosteroids can increase life expectancy across into adulthood [7]. Life expectancy can be further lengthened by the increasing availability and use of disease modifying treatments [8][9][10][11].…”

Section: Introductionmentioning

confidence: 99%

Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel

Molnar,

Szabó,

Vladacenco

et al. 2023

Preprint

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Background An increasing number of patients with Duchenne muscular dystrophy (DMD) now have access to improved standard of care and disease modifying treatments, which improve the clinical course of DMD and extend life expectancy beyond 30 years of age. A key issue for adolescent DMD patients is the transition from paediatric- to adult-oriented healthcare. Adolescents and adults with DMD have unique but highly complex healthcare needs associated with long-term steroid use, orthopaedic, respiratory, cardiac, psychological, and gastrointestinal problems meaning that a comprehensive transition process is required. A sub-optimal transition into adult care can have disruptive and deleterious consequences for a patient’s long-term care. This paper details the results of a consensus amongst clinicians on transitioning adolescent DMD patients from paediatric to adult neurologists that can act as a guide to best practice to ensure patients have continuous comprehensive care at every stage of their journey. The consensus was derived using the Delphi methodology. Fifty-three statements were developed by a Steering Group (the authors of this paper) covering seven topics: Define the goals of transition, Preparing the patient, carers/parents and the adult centre, The transition process at the paediatric centre, The multidisciplinary transition summary – Principles, The multidisciplinary transition summary – Content, First visit in the adult centre, Evaluation of transition. The statements were shared with paediatric and adult neurologists across Central Eastern Europe (CEE) as a survey requesting their level of agreement with each statement. Results Data from 60 responders (54 full responses and six partial responses) were included in the data set analysis. A consensus was agreed across 100% of the statements. Conclusions It is hoped that the findings of this survey which sets out agreed best practice statements, and the transfer template documents developed, will be widely used and so facilitate an effective transition from paediatric to adult care for adolescents with DMD.

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“…Disruption or disassembly of the DAPC results in a cascade of consequences that profoundly impact muscle cell functionality and are likely to act in parallel to generate muscle damage. These comprise susceptibility to muscle stress, NOS-dependent functional ischemia, increased reactive oxygen species production (ROS), calcium overload, mitochondrial dysfunction, inflammation, fibrosis, and inability to properly regenerate muscle [ 150 ].…”

Section: Muscular Dystrophiesmentioning

confidence: 99%

Molecular mechanisms and therapeutic strategies for neuromuscular diseases

Andrea,

Matteo,

Alessandra

et al. 2024

Cell. Mol. Life Sci.

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Neuromuscular diseases encompass a heterogeneous array of disorders characterized by varying onset ages, clinical presentations, severity, and progression. While these conditions can stem from acquired or inherited causes, this review specifically focuses on disorders arising from genetic abnormalities, excluding metabolic conditions. The pathogenic defect may primarily affect the anterior horn cells, the axonal or myelin component of peripheral nerves, the neuromuscular junction, or skeletal and/or cardiac muscles. While inherited neuromuscular disorders have been historically deemed not treatable, the advent of gene-based and molecular therapies is reshaping the treatment landscape for this group of condition. With the caveat that many products still fail to translate the positive results obtained in pre-clinical models to humans, both the technological development (e.g., implementation of tissue-specific vectors) as well as advances on the knowledge of pathogenetic mechanisms form a collective foundation for potentially curative approaches to these debilitating conditions. This review delineates the current panorama of therapies targeting the most prevalent forms of inherited neuromuscular diseases, emphasizing approved treatments and those already undergoing human testing, offering insights into the state-of-the-art interventions.

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Duchenne muscular dystrophy: disease mechanism and therapeutic strategies

Cited by 21 publications

References 423 publications

The Involvement of YNR069C in Protein Synthesis in the Baker’s Yeast, Saccharomyces cerevisiae

The Involvement of YNR069C in Protein Synthesis in the Baker’s Yeast, Saccharomyces cerevisiae

Essential components of an effective transition from paediatric to adult neurologist care for adolescents with Duchenne muscular dystrophy; a consensus derived using the Delphi methodology in Eastern Europe, Greece and Israel

Molecular mechanisms and therapeutic strategies for neuromuscular diseases

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