Ankle-Foot Orthosis in Duchenne Muscular Dystrophy: A 4 year Experience in a Multidisciplinary Neuromuscular Disorders Clinic

microRNAs (miRNAs) are small non-coding RNAs required for the post-transcriptional control of gene expression. MicroRNAs play a critical role in modulating muscle regeneration and stem cell behavior. Muscle regeneration is affected in muscular dystrophies, and a critical point for the development of effective strategies for treating muscle disorders is optimizing approaches to target muscle stem cells in order to increase the ability to regenerate lost tissue. Within this framework, miRNAs are emerging as implicated in muscle stem cell response in neuromuscular disorders and new methodologies to regulate the expression of key microRNAs are coming up. In this review, we summarize recent advances highlighting the potential of miRNAs to be used in conjunction with gene replacement therapies, in order to improve muscle regeneration in the context of Duchenne Muscular Dystrophy (DMD).

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INCREASED EXPRESSION OF HLA ABC CLASS I ANTIGENS BY MUSCLE FIBRES IN DUCHENNE MUSCULAR DYSTROPHY, INFLAMMATORY MYOPATHY, AND OTHER NEUROMUSCULAR DISORDERS

The Lancet ◽

10.1016/s0140-6736(85)91384-4 ◽

1985 ◽

Vol 325 (8425) ◽

pp. 361-363 ◽

Cited By ~ 95

Author(s):

S.T. Appleyard ◽

V. Dubowitz ◽

M.J. Dunn ◽

M.L. Rose

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Neuromuscular Disorders ◽

Inflammatory Myopathy ◽

Class I ◽

Muscle Fibres

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Therapeutic Strategies for Duchenne Muscular Dystrophy: An Update

Genes ◽

10.3390/genes11080837 ◽

2020 ◽

Vol 11 (8) ◽

pp. 837 ◽

Cited By ~ 4

Author(s):

Chengmei Sun ◽

Luoan Shen ◽

Zheng Zhang ◽

Xin Xie

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Motor Neurons ◽

Neuromuscular Junctions ◽

Neuromuscular Disorders ◽

Dystrophin Gene ◽

Current Status ◽

Muscle Stem Cells ◽

Cell Based Therapy ◽

Dystrophin Protein

Neuromuscular disorders encompass a heterogeneous group of conditions that impair the function of muscles, motor neurons, peripheral nerves, and neuromuscular junctions. Being the most common and most severe type of muscular dystrophy, Duchenne muscular dystrophy (DMD), is caused by mutations in the X-linked dystrophin gene. Loss of dystrophin protein leads to recurrent myofiber damage, chronic inflammation, progressive fibrosis, and dysfunction of muscle stem cells. Over the last few years, there has been considerable development of diagnosis and therapeutics for DMD, but current treatments do not cure the disease. Here, we review the current status of DMD pathogenesis and therapy, focusing on mutational spectrum, diagnosis tools, clinical trials, and therapeutic approaches including dystrophin restoration, gene therapy, and myogenic cell transplantation. Furthermore, we present the clinical potential of advanced strategies combining gene editing, cell-based therapy with tissue engineering for the treatment of muscular dystrophy.

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The Duchenne muscular dystrophy gene and cancer

Cellular Oncology ◽

10.1007/s13402-020-00572-y ◽

2020 ◽

Author(s):

Leanne Jones ◽

Michael Naidoo ◽

Lee R. Machado ◽

Karen Anthony

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Muscle Protein ◽

Neuromuscular Disorders ◽

Becker Muscular Dystrophy ◽

Gene Products ◽

Large Gene ◽

Cancer Types ◽

And Function ◽

Dystrophin Protein

Abstract Background Mutation of the Duchenne muscular dystrophy (DMD) gene causes Duchenne and Becker muscular dystrophy, degenerative neuromuscular disorders that primarily affect voluntary muscles. However, increasing evidence implicates DMD in the development of all major cancer types. DMD is a large gene with 79 exons that codes for the essential muscle protein dystrophin. Alternative promotor usage drives the production of several additional dystrophin protein products with roles that extend beyond skeletal muscle. The importance and function(s) of these gene products outside of muscle are not well understood. Conclusions We highlight a clear role for DMD in the pathogenesis of several cancers, including sarcomas, leukaemia’s, lymphomas, nervous system tumours, melanomas and various carcinomas. We note that the normal balance of DMD gene products is often disrupted in cancer. The short dystrophin protein Dp71 is, for example, typically maintained in cancer whilst the full-length Dp427 gene product, a likely tumour suppressor, is frequently inactivated in cancer due to a recurrent loss of 5’ exons. Therefore, the ratio of short and long gene products may be important in tumorigenesis. In this review, we summarise the tumours in which DMD is implicated and provide a hypothesis for possible mechanisms of tumorigenesis, although the question of cause or effect may remain. We hope to stimulate further study into the potential role of DMD gene products in cancer and the development of novel therapeutics that target DMD.

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