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 (AMONDYS 45™): An Antisense Oligonucleotide for Duchenne Muscular Dystrophy

19 October 24 Articles ، Julia M. Hum DMD ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، antisenseoligonucleotide ، الیگونوکلئوتید_آنتی_سنس ، Casimersen ، NeuromuscularDisorders ، AntisenseOligonucleotide ، FDAApproval ، کاسیمرسن ، حذف_اگزون
Casimersen (AMONDYS 45™): An Antisense Oligonucleotide for Duchenne Muscular Dystrophy
Casimersen (AMONDYS 45™) is a therapeutic antisense oligonucleotide designed for patients with Duchenne Muscular Dystrophy (DMD) whose gene mutation is amenable to exon 45 skipping. DMD is a genetic disorder characterized by the absence of dystrophin, a crucial protein for muscle function. This results in progressive muscle degeneration and loss of mobility, eventually affecting the heart and lungs. Casimersen works by binding to the mutated pre-mRNA, skipping exon 45 to …
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Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges

16 October 24 Articles ، Toshifumi Yokota ، Akinori Nakamura ، Yusuke Echigoya DMD ، DuchenneMuscularDystrophy ، GeneTherapy ، BeckerMuscularDystrophy ، ExonSkipping ، antisenseoligonucleotide ، الیگونوکلئوتید_آنتی_سنس ، دیستروفی_عضلانی_بکر ، پرش_اگزون ، AntisenseOligonucleotide ، MultipleExonSkipping ، پرش_اگزون_چندگانه
Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges
The paper titled "Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges" explores an advanced therapeutic strategy for treating Duchenne Muscular Dystrophy (DMD), a severe genetic disorder caused by mutations in the dystrophin gene. This mutation leads to the absence of functional dystrophin protein, which is essential for maintaining muscle integrity. One emerging treatment method involves antisense oligonucleotide (AO)-mediated exon skipping, where specific exons are skipped …
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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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Predictors of cardiac disease in duchenne muscular dystrophy: a systematic review and evidence grading

04 October 24 Articles ، Hanns Lochmuller ، Karim Wahbi ، Erik Landfeldt ، Christian Werner DuchenneMuscularDystrophy ، ExonSkipping ، دیستروفی_عضلانی_دوشن ، CardiacDisease ، GeneticMutations ، HeartFailure ، ACEInhibitors ، Glucocorticoids ، Cardiomyopathy ، نارسایی_قلبی ، جهش_ژنتیکی ، بیماری_قلبی ، مهارکننده_ACE ، اگزون_اسکیپ ، کاردیومیوپاتی ، گلوکوکورتیکوئید
Predictors of cardiac disease in duchenne muscular dystrophy: a systematic review and evidence grading
Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder characterized by progressive muscle degeneration, often leading to severe cardiac complications. This systematic review aimed to analyze and grade the available literature on predictors of cardiac disease in DMD patients. The researchers reviewed studies published from 2000 to 2022, involving 9,232 patients across 33 publications. The focus was on pharmacological treatments and genetic mutations that influence heart health in DMD patients, …
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Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy

17 September 24 Articles ، Haluk Topaloglu DMD ، DuchenneMuscularDystrophy ، GeneTherapy ، BeckerMuscularDystrophy ، ExonSkipping ، AntisenseOligonucleotides ، دیستروفی_عضلانی_دوشن ، Eteplirsen ، اتپلیرسن ، Viltolarsen ، Golodirsen ، Casimersen ، دیستروفی_عضلانی_بکر ، پرش_اگزون ، کاسیمیرسن ، گلودیرسن ، ویلتولارسن ، ژندرمانی ، الیگونوکلئوتید_ضدحسی
Current Outline of Exon Skipping Trials in Duchenne Muscular Dystrophy
Personal take on this article: Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene, leading to muscle degeneration and weakness. In recent years, exon skipping therapy has emerged as a promising molecular treatment. This approach uses antisense oligonucleotides (AONs) to skip specific exons during the mRNA splicing process, helping to restore the reading frame and produce a functional, albeit truncated, dystrophin protein. This …
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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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Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides

15 September 24 Articles ، Annemieke Aartsma-Rus GeneTherapy ، ExonSkipping ، ASO ، PersonalizedMedicine ، NOf1Therapy ، آنتی‌سنس_الیگو‌نوکلئوتید ، پریدن_اکسون ، درمان_ژنی ، پزشکی_شخصی_سازی_شده ، درمان_برای_یک_فرد
Consensus Guidelines for the Design and In Vitro Preclinical Efficacy Testing N-of-1 Exon Skipping Antisense Oligonucleotides
    Personal take on this article: This paper outlines consensus guidelines for the design and testing of antisense oligonucleotides (ASOs) specifically tailored to individual patients, known as N-of-1 therapies. ASOs are short strands of synthetic DNA that can modify gene expression by altering pre-mRNA splicing, offering potential treatments for various genetic diseases. The paper highlights the importance of designing ASOs that skip certain exons to restore protein function, which …
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Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms

15 September 24 Articles ، Annemieke Aartsma-Rus DuchenneMuscularDystrophy ، GeneTherapy ، ExonSkipping ، AntisenseOligonucleotides ، دیستروفی_عضلانی_دوشن ، SpliceModulation ، ESEMotifs ، درمان_ژن
Guidelines for Antisense Oligonucleotide Design and Insight Into Splice-modulating Mechanisms
    Personal take on this article: The paper provides a comprehensive set of guidelines for designing antisense oligonucleotides (AONs) with a focus on splice modulation. AONs are tools used to interfere with gene expression by targeting specific mRNA sequences, either to degrade them, block translation, or modify splicing. This study particularly focuses on the latter, using AONs to induce exon skipping in the dystrophin gene, which has therapeutic potential …
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An update on Becker muscular dystrophy

26 August 24 Articles ، Volker Straub ، Michela Guglieri DMD ، BeckerMuscularDystrophy ، GeneticSequencing ، ClinicalTrials ، NaturalHistoryData ، HDACInhibitors ، GeneTransfer ، ExonSkipping ، MuscleFunction ، RareDiseaseResearch
An update on Becker muscular dystrophy
    Personal take on this article: Recent developments in Becker muscular dystrophy (BMD) research have focused on improving trial readiness and exploring new treatment strategies. Although BMD has historically been overshadowed by Duchenne muscular dystrophy (DMD), recent advances in diagnostics and natural history studies have highlighted the need for more targeted clinical trials. Improved genetic sequencing has led to more frequent diagnoses of BMD, even in diverse populations, and …
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