PTPN1/2 inhibition promotes muscle stem cell differentiation in Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is a lethal disease caused by mutations in the gene that encodes dystrophin. Dystrophin deficiency also impacts muscle stem cells (MuSCs), resulting in impaired asymmetric stem cell division and myogenic commitment. Using MuSCs from DMD patients and the DMD mouse model , we found that PTPN1 phosphatase expression is up-regulated and STAT3 phosphorylation is concomitantly down-regulated in DMD MuSCs.

The Gut Microbiota Involvement in the Panorama of Muscular Dystrophy Pathogenesis.

Muscular dystrophies (MDs) are genetically heterogeneous diseases characterized by primary skeletal muscle atrophy. The collapse of muscle structure and irreversible degeneration of tissues promote the occurrence of comorbidities, including cardiomyopathy and respiratory failure. Mitochondrial dysfunction leads to inflammation, fibrosis, and adipogenic cellular infiltrates that exacerbate the symptomatology of MD patients.

Developing Advanced Chimeric Cell Therapy for Duchenne Muscular Dystrophy.

Duchenne Muscular Dystrophy (DMD) is a lethal, X-linked disorder leading to muscle degeneration and premature death due to cardiopulmonary complications. Currently, there is no cure for DMD. We previously confirmed the efficacy of human Dystrophin-Expressing Chimeric (DEC) cells created via the fusion of myoblasts from normal and DMD-affected donors.

Similar disease progression in nonsense Duchenne muscular dystrophy boys as general natural history: Single Brazilian center 15 years registry view.

Duchenne muscular dystrophy is a progressive and fatal X-linked neuromuscular disease. Emergent disease-modifying therapy (DMT) in nonsense Duchenne muscular dystrophy (nmDMD) has brought new perspectives to slow down functional decline in this fatal disease. To investigate if there are differences in natural history between nmDMD and other genotypes, we described a retrospective cohort analysis of 25 nonsense mutation DMD (nmDMD) boys without disease-modifying therapy, aged between 1 and 22 years, over the last 15 years (2007-2022) in a single neuromuscular center in Rio de Janeiro and use published data on DMD natural history for comparison.

Photobiomodulation Therapy Effects at Different Stages of the Dystrophic Phenotype: A Histomorphometric Study.

Objective: The purpose of this study was to evaluate the effects of photobiomodulation therapy (PBMT) on the gastrocnemius muscle of X-linked muscular dystrophy (mdx) mice.

Methods: The study used an experimental model of Duchenne muscular dystrophy, at 3 stages of degeneration/regeneration of muscle fibers: an acute stage (14-28 days old), acute and stabilized stages (14-42 days old), and a stabilized stage (28-42 days old). Photobiomodulation therapy (also known as low-level light therapy) at 0.

Uncovering the Embryonic Origins of Duchenne Muscular Dystrophy.

Duchenne muscular dystrophy (DMD) is a severe degenerative muscle disease caused by mutations in the DMD gene, which encodes dystrophin. Despite its initial description in the late 19th century by French neurologist Guillaume Duchenne de Boulogne, and identification of causal DMD genetic mutations in the 1980s, therapeutics remain challenging. The current standard of care is corticosteroid treatment, which delays the progression of muscle dysfunction but is associated with significant adverse effects.

Cultural adaptation, validity and reliability of the Turkish version of north star ambulatory assessment.

Purpose: The North Star Ambulatory Assessment (NSAA) is a functional motor outcome measure originally developed for patients with Duchenne muscular dystrophy (DMD). The aim of this study was to perform the cultural adaptation and investigate the validity and reliability of the Turkish version of the NSAA (T-NSAA) in DMD.

Methods: After translation process, internal consistency, interrater and test-retest reliability of the NSAA were determined by using the Cronbach Alpha Coefficient and Intraclass Correlation Coefficient (ICC), respectively.

Adrenal Insufficiency With Hypoglycemia in a Medically Complex Pediatric Patient.

Medically complex children present a low frequency but often high acuity patient population for emergency medical services (EMS) personnel. We present a case of a 12-year-old male with Duchenne muscular dystrophy and adrenal agenesis found unresponsive. Detailed history-taking was crucial for diagnostic accuracy and this patient's favorable outcome.

Early diagnosis of Duchenne muscular dystrophy - A Treat-NMD international workshop.

The diagnosis of Duchenne muscular dystrophy (DMD) is significant at any stage, however an early diagnosis in a presymptomatic or very early phase of DMD, offers unique opportunities and challenges for families and health care providers. Currently, there is limited evidence as to the optimal models of care during this stage of the condition..

Histone deacetylase 6 inhibition promotes microtubule acetylation and facilitates autophagosome-lysosome fusion in dystrophin-deficient mdx mice.

Aim: Duchenne muscular dystrophy is a progressive muscle-wasting disease caused by mutations in the dystrophin gene. Despite progress in dystrophin-targeted gene therapies, it is still a fatal disease requiring novel therapeutics that can be used synergistically or alternatively to emerging gene therapy. Defective autophagy and disorganized microtubule networks contribute to dystrophic pathogenesis, yet the mechanisms by which microtubule alterations regulate autophagy remain elusive.

Exploring novel natural compound-based therapies for Duchenne muscular dystrophy management: insights from network pharmacology, QSAR modeling, molecular dynamics, and free energy calculations.

Muscular dystrophies encompass a heterogeneous group of rare neuromuscular diseases characterized by progressive muscle degeneration and weakness. Among these, Duchenne muscular dystrophy (DMD) stands out as one of the most severe forms. The present study employs an integrative approach combining network pharmacology, quantitative structure-activity relationship (QSAR) modeling, molecular dynamics (MD) simulations, and free energy calculations to identify potential therapeutic targets and natural compounds for DMD.

Novel gene therapies for sickle cell disease, Duchenne muscular dystrophy, and hemophilia A.

This article discusses novel genetic therapies for sickle cell disease, Duchenne muscular dystrophy, and hemophilia A. Gene therapies have the potential to deliver more targeted and effective approaches to treatment, especially for rare diseases for which the availability of approved therapies is limited. This article describes the first FDA-approved CRISPR/Cas9 treatment and the treatment protocols, indications, warnings, precautions, cost, and contraindications of four novel genetic therapies.