Challenges of Assessing Exon 53 Skipping of the HumanDMD Transcript with Locked Nucleic Acid-ModifiedAntisense Oligonucleotides in a Mouse Modelfor Duchenne Muscular Dystrophy

02 January 25 Articles ، Annemieke Aartsma-Rus ، Anastasia Khvorova ، Masad J. Damha DMD ، ExonSkipping ، AntisenseTherapy ، حذف_اگزون ، DystrophinRestoration ، بازسازی_دیستروفین ، LNA ، PreclinicalStudy ، دیستروفی_دوشن ، الیگونوکلئوتید
Challenges of Assessing Exon 53 Skipping of the HumanDMD Transcript with Locked Nucleic Acid-ModifiedAntisense Oligonucleotides in a Mouse Modelfor Duchenne Muscular Dystrophy
  Duchenne muscular dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene, leading to muscle degeneration and early death. Antisense oligonucleotides (AONs) are promising therapeutic agents designed to skip faulty exons in the dystrophin gene and restore functional protein.   This study evaluated the efficiency of AONs targeting exon 53 of the dystrophin gene in a mouse model, using chemically modified AONs to enhance skipping …
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Direct Reprogramming of Human DMD Fibroblasts into Myotubes for In Vitro Evaluation of Antisense-Mediated Exon Skipping and Exons 45–55 Skipping Accompanied by Rescue of Dystrophin Expression

15 November 24 Articles ، Toshifumi Yokota DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، AntisenseTherapy ، Dystrophin ، درمان_آنتی‌سنس ، FibroblastReprogramming ، PhosphorodiamidateMorpholinoOligomer ، Myotube ، MyoD ، MuscleCellModel ، مورفولینو ، ژن_درمانی ، میوتیوب
Direct Reprogramming of Human DMD Fibroblasts into Myotubes for In Vitro Evaluation of Antisense-Mediated Exon Skipping and Exons 45–55 Skipping Accompanied by Rescue of Dystrophin Expression
1. Background and Purpose: Antisense oligonucleotide (AO)-mediated exon skipping is a promising strategy for treating genetic disorders like Duchenne Muscular Dystrophy (DMD). This method alters dystrophin pre-mRNA splicing to create a shorter but functional protein, potentially converting severe DMD into a milder Becker Muscular Dystrophy (BMD) phenotype. The paper highlights the significance of skipping exons 45–55, a common mutation area that could help nearly half of DMD patients.   2. …
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Casimersen for Duchenne muscular dystrophy

15 October 24 Articles ، Toshifumi Yokota DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، AntisenseTherapy ، Casimersen ، ژن‌درمانی ، Amondys45 ، کاسیمرسن ، آنتی‌سنس_تراپی
Casimersen for Duchenne muscular dystrophy
Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder affecting males, characterized by muscle degeneration and early death. Antisense-mediated exon skipping therapy offers a new hope by producing a truncated but functional dystrophin protein. Casimersen (Amondys 45) specifically targets exon 45 of the dystrophin gene, which applies to about 8% of DMD patients. The drug was approved by the FDA in 2021, based on its promising preclinical and phase I/II …
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Myotonic Dystrophies: Targeting Therapies for Multisystem Disease

07 October 24 Articles ، W. David Arnold AntisenseTherapy ، MyotonicDystrophy ، RNAtoxicity ، CTGrepeats ، DMPKgene ، CNBPgene ، MuscleWeakness ، GeneticDisorder ، Biomarkers ، دیستروفی_میوتونیک ، اختلال_ژنتیکی ، ضعف_عضلانی ، درمان_آنتی‌سنس
Myotonic Dystrophies: Targeting Therapies for Multisystem Disease
Myotonic Dystrophy (DM) is an inherited, multisystemic disorder that affects muscle and various other organs. There are two types: DM1 and DM2. DM1, caused by CTG repeat expansion in the "DMPK" gene, is more common and severe, involving muscle weakness, myotonia, and systemic complications such as cardiac, respiratory, and gastrointestinal issues. DM2, caused by CCTG repeat expansion in the "CNBP" gene, presents with less severe systemic symptoms but is still …
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Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot

17 September 24 Articles ، Toshifumi Yokota DMD ، DuchenneMuscularDystrophy ، GeneTherapy ، Microdystrophin ، ExonSkipping ، درمان_ژن ، AntisenseTherapy ، AAV ، NterminalMutations ، اسکپ_اکسون ، اولیگونوکلئوتید_آنتی_سن ، دوشن_دیستروفی_عضلانی ، میکرودیستروفین ، جهش_نقطه‌ای
Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot
Personal take on this article: Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene, leading to progressive muscle deterioration. The lack of functional dystrophin causes muscle weakness, cardiac and respiratory issues, and ultimately leads to early death. Traditional treatments like corticosteroids only delay the disease progression and are associated with serious side effects. In recent years, gene and antisense therapies have emerged as …
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