Abstract 477: Role of Telomere Dysfunction in Duchenne Muscular Dystrophy Cardiomyopathy

Background: Increasing evidence suggests that Duchenne muscular dystrophy (DMD) gene is involved in the occurrence of different types of cancer. Moreover, development of sarcomas was reported in mdx mice, the murine model of DMD, in older age. So far, nine isolated DMD patients were reported with concomitant cancer, four of whom with rhabdomyosarcoma (RMS), but no systematic investigation was performed about the true incidence of cancer in DMD. Methods: All members of the Italian Association of Myology were asked about the occurrence of cancer in their DMD patients in the last 30 years. Results: Four DMD patients with cancer were reported after checking 2455 medical records. One developed brain tumour at the age of 35 years. Two patients had alveolar RMS at 14 and 17 years of age. The fourth patient had a benign enchondroma when 11-year-old. Conclusion: Prevalence of cancer in general in the Italian DMD patients does not seem to be different from that in the general population with the same age range. Although the small numbers herein presented do not allow definitive conclusion, the frequent occurrence of RMS in DMD patients raises an alert for basic researchers and clinicians. The role of DMD gene in cancer merits further investigations.

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ROLE OF PANCHAKARMA IN DUCHENNE MUSCULAR DYSTROPHY

International Journal of Research in Ayurveda and Pharmacy ◽

10.7897/2277-4343.04238 ◽

2013 ◽

Vol 4 (2) ◽

pp. 272-275

Author(s):

Ashutosh Chaturvedi ◽

Prasanna N Rao ◽

Shailaja U ◽

M Ashvini Kumar

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy

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The microRNA, miR-133b, functions to slow Duchenne muscular dystrophy pathogenesis

10.1101/2020.03.19.988519 ◽

2020 ◽

Author(s):

Thomas Taetzsch ◽

Dillon Shapiro ◽

Randa Eldosougi ◽

Tracey Myers ◽

Robert Settlage ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Skeletal Muscles ◽

Tibialis Anterior Muscle ◽

Muscle Fibers ◽

Progressive Degeneration ◽

Protein Encoding ◽

Small Muscle ◽

Encoding Genes

AbstractDuchenne muscular dystrophy (DMD) is characterized by progressive degeneration of skeletal muscles. To date, there are no treatments available to slow or prevent the disease. Hence, it remains essential to identify molecular factors that promote muscle biogenesis since they could serve as therapeutic targets for treating DMD. While the muscle enriched microRNA, miR-133b, has been implicated in the biogenesis of muscle fibers, its role in DMD remains unknown. To assess the role of miR-133b in DMD-affected skeletal muscles, we genetically ablated miR-133b in the mdx mouse model of DMD. In the absence of miR-133b, the tibialis anterior muscle of juvenile and adult mdx mice is populated by small muscle fibers with centralized nuclei, exhibits increased fibrosis, and thickened interstitial space. Additional analysis revealed that loss of miR-133b exacerbates DMD-pathogenesis partly by altering the number of satellite cells and levels of protein-encoding genes, including previously identified miR-133b targets as well as genes involved in cell proliferation and fibrosis. Altogether, our data demonstrate that skeletal muscles utilize miR-133b to mitigate the deleterious effects of DMD.

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Mast cells in the pathophysiology of Duchenne muscular dystrophy in Golden Retriever dogs

Pesquisa Veterinária Brasileira ◽

10.1590/1678-5150-pvb-6340 ◽

2020 ◽

Vol 40 (10) ◽

pp. 791-797

Author(s):

Isabela M. Martins ◽

Lygia M.M. Malvestio ◽

Jair R. Engracia-Filho ◽

Gustavo S. Claudiano ◽

Flávio R. Moraes ◽

...

Keyword(s):

Duchenne Muscular Dystrophy ◽

Mast Cells ◽

Muscular Dystrophy ◽

Fibrous Tissue ◽

Control Group ◽

Golden Retriever ◽

Collagenous Tissue ◽

Muscle Types ◽

Muscle Groups

ABSTRACT: The Golden Retriever muscular dystrophy (GRMD) is one of the best models of Duchenne muscular dystrophy (DMD), with similar genotypic and phenotypic manifestations. Progressive proliferation of connective tissue in the endomysium of the muscle fibers occurs in parallel with the clinical course of the disease in GRMD animals. Previous studies suggest a relationship between mast cells and the deposition of fibrous tissue due to the release of mediators that recruit fibroblasts. The aim of this study was to evaluate the presence of mast cells and their relationship with muscle injury and fibrosis in GRMD dogs of different ages. Samples of muscle groups from six GRMD and four control dogs, aged 2 to 8 months, were collected and analyzed. The samples were processed and stained with HE, toluidine blue, and Azan trichrome. Our results showed that there was a significant increase in infiltration of mast cells in all muscle groups of GRMD dogs compared to the control group. The average number of mast cells, as well as the deposition of fibrous tissue, decreased with age in GRMD dogs. In the control group, all muscle types showed a significant increase in the amount of collagenous tissue. This suggests increased mast cell degranulation occurred in younger GRMD dogs, resulting in increased interstitial space and fibrous tissue in muscle, which then gradually decreased over time as the dogs aged. However, further studies are needed to clarify the role of mast cells in the pathogenesis of fibrosis.

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