AI Article Synopsis
- Oligonucleotide-based therapies have been shown to induce targeted exon skipping in the dystrophin pre-mRNA of Duchenne muscular dystrophy patients, leading to the production of a shortened but functional dystrophin protein.
- This therapy has the potential to transform the severe Duchenne muscular dystrophy into the milder Becker muscular dystrophy phenotype.
- If approved, this splice switching technology could be the first gene-specific therapy for Duchenne muscular dystrophy and has demonstrated good tolerance in patients.
Article Abstract
Several clinical trials have recently demonstrated that oligonucleotide-based drugs induced targeted exon skipping in dystrophin pre-mRNA in Duchenne muscular dystrophy patients, resulting in novel expression of a truncated but functional isoform of the dystrophin protein. Such exon skipping therapy has the potential to convert the lethal Duchenne phenotype into the less severe Becker phenotype. This splice switching technology has been shown to be very well tolerated and may become the first gene-specific therapy, if approved, for the treatment of Duchenne muscular dystrophy.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Inhibition of hippocampal interleukin-6 receptor-evoked signalling normalises long-term potentiation in dystrophin-deficient mice.
Brain Behav Immun Health
February 2025
Department of Physiology, School of Medicine, University College Cork, Western Road, Cork, Ireland.
Duchenne muscular dystrophy (DMD), an X-linked neuromuscular disorder, characterised by progressive immobility, chronic inflammation and premature death, is caused by the loss of the mechano-transducing signalling molecule, dystrophin. In non-contracting cells, such as neurons, dystrophin is likely to have a functional role in synaptic plasticity, anchoring post-synaptic receptors. Dystrophin-expressing hippocampal neurons are key to cognitive functions such as emotions, learning and the consolidation of memories.
View Article and Find Full Text PDFLabel-free proteomic analysis of Duchenne and Becker muscular dystrophy showed decreased sarcomere proteins and increased ubiquitination-related proteins.
Sci Rep
January 2025
Graduate Course in Medicine (Pathological Anatomy), Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
Muscular dystrophies (MD) are a group of hereditary diseases marked by progressive muscle loss, leading to weakness and degeneration of skeletal muscles. These conditions often result from structural defects in the Dystrophin-Glycoprotein Complex (DGC), as seen in Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Since MDs currently have no cure, research has focused on identifying potential therapeutic targets to improve patients' quality of life.
View Article and Find Full Text PDFPharmacological and non-pharmacological therapies for prevention and treatment of osteoporosis in Duchenne Muscular Dystrophy: A systematic review.
Bone
January 2025
Department of Paediatric Endocrinology, Royal Hospital for Children, Glasgow, United Kingdom; School of Medicine, Dentistry & Nursing, University of Glasgow, United Kingdom. Electronic address:
Background: Long term glucocorticoid treatment in Duchenne Muscular Dystrophy (DMD) is associated with a high incidence of fragility fractures. This systematic review aims to assess the current evidence for pharmacological and non-pharmacological treatment for osteoporosis in children and adults with DMD.
Methods: Three online databases (Embase, Medline, Cochrane Library) were searched for studies that evaluated interventions for treatment or prevention of osteoporosis in DMD.
Review of upper extremity passive joint impedance identification in people with Duchenne Muscular Dystrophy.
J Neuroeng Rehabil
January 2025
Department of BioMechanical Engineering, Delft University of Technology, Mekelweg 2, Delft, 2628 CD, South-Holland, The Netherlands.
Duchenne Muscular Dystrophy (DMD) progressively leads to loss of limb function due to muscle weakness. The incurable nature of the disease shifts the focus to improving quality of life, including assistive supports to improve arm function. Over time, the passive joint impedance (Jimp) of people with DMD increases.
View Article and Find Full Text PDFThe Role of microRNA-22 in Metabolism.
Int J Mol Sci
January 2025
Center for RNA Medicine, Department of Clinical Medicine, Aalborg University, 2450 Copenhagen, Denmark.
microRNA-22 (miR-22) plays a pivotal role in the regulation of metabolic processes and has emerged as a therapeutic target in metabolic disorders, including obesity, type 2 diabetes, and metabolic-associated liver diseases. While miR-22 exhibits context-dependent effects, promoting or inhibiting metabolic pathways depending on tissue and condition, current research highlights its therapeutic potential, particularly through inhibition strategies using chemically modified antisense oligonucleotides. This review examines the dual regulatory functions of miR-22 across key metabolic pathways, offering perspectives on its integration into next-generation diagnostic and therapeutic approaches while acknowledging the complexities of its roles in metabolic homeostasis.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!