Muscle-Specific Promoters for Gene Therapy

Skopenkova, V.; Егорова, Т. В.; Bardina, Maryana V.

doi:10.32607/actanaturae.11063

Cited by 22 publications

(24 citation statements)

References 94 publications

(202 reference statements)

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“…Due to diffuse cardiac conduction system lesions, guidelines recommend implanting a permanent pacemaker if the patient develops severe bradyarrhythmias ( 15 ). As a result of gaining experience in developing muscle-specific synthetic promoters, scientists can develop constructs that mimic the distinctive expression profile of muscles-specific proteins and fully recover their lost functions ( 16 ). For those with inherited muscle metabolic diseases, this treatment may be particularly useful.…”

Section: Discussionmentioning

confidence: 99%

Case report: An unusual case of desmin myopathy associated with heart failure and arrhythmia

Liu

Liu²,

Li³

et al. 2022

Front. Cardiovasc. Med.

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IntroductionDesmin myopathy is a novel desmin (DES) indel mutation that causes severe atypical cardiomyopathy as well as atrioventricular block and skeletal myopathy. The mutation of the gene of the nodal tail causes myocardial injury. Rarely does desmin myopathy cause bilateral ventricular changes.Case presentationWe present a case of a 48-year-old man admitted with dyspnea and edema of both lower extremities. Due to bilateral lower limb weakness and calf muscle atrophy, gene sequencing was performed. The results showed that there was a pure missense mutation in the 8th exon region of the DES gene (c.1366G>A), encoding amino acid p.G456R (glycine>arginine). Supplementary examination suggests a high possibility of heart failure, atrial flutter, and desmin myopathy. Atrial flutter was treated by radiofrequency ablation. The clinical symptoms were stable after oral administration of rivaroxaban, coenzyme Q10, and ARNI.ConclusionIn our case, mutation results are the gold standard for the diagnosis of nodular myopathy. Cardiac magnetic resonance can define the extent and degree of cardiomyopathy and quantitatively evaluate cardiac function. At present, there is a lack of specific treatment for proteolytic myopathy. Therefore, the treatment for heart failure proves effective. Due to the multiple systems involved, early diagnosis and multidisciplinary management are critical to improving patient outcomes.

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Section: Discussionmentioning

confidence: 99%

Case report: An unusual case of desmin myopathy associated with heart failure and arrhythmia

Liu

Liu²,

Li³

et al. 2022

Front. Cardiovasc. Med.

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“…121 Likewise, the search for AAV-based treatment of muscular dystrophies motivated development of muscle-specific AAV vectors. 122 Myofiber-specific promoters derived from muscle creatine kinase, α-actin, and desmin genes have shown some specificity and efficacy (reviewed elsewhere 123 ). An additional advantage of using cell type-specific promoters is the propensity for low expression in the liver.…”

Section: Cell-type Promoters and Regulatory Elements To Restrict Tran...mentioning

confidence: 99%

“…An additional advantage of using cell type-specific promoters is the propensity for low expression in the liver. 121,123 Another way of controlling gene expression from viral vectors is by inserting transcriptional regulatory elements or miRNA sequences into the vector. Using repeats of cis-regulatory modules in an AAV vector, Sarcar et al 124 demonstrated robust transgene transcription in muscle.…”

Section: Cell-type Promoters and Regulatory Elements To Restrict Tran...mentioning

confidence: 99%

Gene Therapeutic Strategies for Peripheral Artery Disease and New Opportunities Provided by Adeno-Associated Virus Vectors

Khachigian

Varcoe

Suoranta

et al. 2023

ATVB

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Peripheral artery disease (PAD) is a vascular disorder caused by occlusive atherosclerosis, which commonly impairs blood flow to the lower extremities. The prevalence of PAD is increasing globally with >200 million people affected. PAD remains a growing global health problem as the population continues to age and diabetes incidence grows. Many patients with PAD, most notably those with critical limb ischemia, fail attempts at surgical and percutaneous intervention to improve blood flow and are at risk of amputation. Gene therapy provides an opportunity to change the clinical course of PAD in these patients via strategies that increase vascular supply through angiogenesis and arteriogenesis improving muscle perfusion and function in ischemic legs. This article discusses gene therapy approaches in the context of PAD, both intermittent claudication and critical limb ischemia, and the promise of adeno-associated virus–based strategies delivering not just VEGFs (vascular endothelial growth factors) but a range of other mediators as potential new therapeutics. We also highlight challenges and failures in the clinical translation of gene therapy for PAD and how at least some of these obstacles may be overcome using adeno-associated virus.

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“…Musclespecific activation of cytokine gene expression would also be informative and potentially applicable in therapeutics, and the CRISPR activation technology (CRISPRa) provides a powerful tool [179]. For instance, the dCas9-SunTag system [180,181] can be combined with appropriate promoters [182] to drive Cre in order to achieve muscle-specific gene activation.…”

Section: Concluding Remarks and Future Directionsmentioning

confidence: 99%

Muscle cell‐derived cytokines in skeletal muscle regeneration

2022

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Regeneration of the mammalian adult skeletal muscle is a well-orchestrated process regulated by multiple proteins and signalling pathways. Cytokines constitute a major class of regulators of skeletal myogenesis. It is well established that infiltrating immune cells at the site of muscle injury secrete cytokines, which play critical roles in the myofibre repair and regeneration process. In the past 10-15 years, skeletal muscle itself has emerged as a prolific producer of cytokines. Much attention in the field has been focused on the endocrine effects of muscle-secreted cytokines (myokines) on metabolic regulation. However, ample evidence suggests that muscle-derived cytokines also regulate myogenic differentiation and muscle regeneration in an autocrine manner. In this review, we survey cytokines that meet two criteria: (a) evidence of expression by muscle cells; (b) evidence demonstrating a myogenic function. Dozens of cytokines representing several major classes make up this group, and together they regulate all steps of the myogenic process. How such a large array of cytokines coordinate their signalling to form a regulatory network is a fascinating, pressing question. Functional studies that can distinguish the source of the cytokines in vivo are also much needed in order to facilitate exploration of their full therapeutic potential.

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Muscle-Specific Promoters for Gene Therapy

Cited by 22 publications

References 94 publications

Case report: An unusual case of desmin myopathy associated with heart failure and arrhythmia

Case report: An unusual case of desmin myopathy associated with heart failure and arrhythmia

Gene Therapeutic Strategies for Peripheral Artery Disease and New Opportunities Provided by Adeno-Associated Virus Vectors

Muscle cell‐derived cytokines in skeletal muscle regeneration

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