دورية أكاديمية
أعرض في EDS

Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.

التفاصيل البيبلوغرافية
العنوان: Limb Girdle Muscular Dystrophy Type 2B (LGMD2B): Diagnosis and Therapeutic Possibilities.
المؤلفون: Poudel BH; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia.; Perron Institute for Neurological and Translational Science, The University of Western Australia, Perth, WA 6009, Australia.; Central Department of Biotechnology, Tribhuvan University, Kirtipur, Kathmandu 44618, Nepal., Fletcher S; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia., Wilton SD; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia.; Perron Institute for Neurological and Translational Science, The University of Western Australia, Perth, WA 6009, Australia., Aung-Htut M; Centre for Molecular Medicine and Innovative Therapeutics, Health Futures Institute, Murdoch University, Perth, WA 6150, Australia.; Perron Institute for Neurological and Translational Science, The University of Western Australia, Perth, WA 6009, Australia.
المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 May 21; Vol. 25 (11). Date of Electronic Publication: 2024 May 21.
نوع المنشور: Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Basel, Switzerland : MDPI, [2000-
مواضيع طبية MeSH: Muscular Dystrophies, Limb-Girdle*/therapy , Muscular Dystrophies, Limb-Girdle*/genetics , Muscular Dystrophies, Limb-Girdle*/diagnosis , Dysferlin*/genetics , Dysferlin*/metabolism , Genetic Therapy*/methods , Mutation*, Humans ; Oligonucleotides, Antisense/therapeutic use ; Animals
مستخلص: Dysferlin is a large transmembrane protein involved in critical cellular processes including membrane repair and vesicle fusion. Mutations in the dysferlin gene ( DYSF ) can result in rare forms of muscular dystrophy; Miyoshi myopathy; limb girdle muscular dystrophy type 2B (LGMD2B); and distal myopathy. These conditions are collectively known as dysferlinopathies and are caused by more than 600 mutations that have been identified across the DYSF gene to date. In this review, we discuss the key molecular and clinical features of LGMD2B, the causative gene DYSF , and the associated dysferlin protein structure. We also provide an update on current approaches to LGMD2B diagnosis and advances in drug development, including splice switching antisense oligonucleotides. We give a brief update on clinical trials involving adeno-associated viral gene therapy and the current progress on CRISPR/Cas9 mediated therapy for LGMD2B, and then conclude by discussing the prospects of antisense oligomer-based intervention to treat selected mutations causing dysferlinopathies.
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معلومات مُعتمدة: AP1144791 NHMRC
فهرسة مساهمة: Keywords: LGMD2B; antisense oligonucleotides; dysferlinopathies; gene therapy; readthrough therapy
المشرفين على المادة: 0 (Dysferlin)
0 (DYSF protein, human)
0 (Oligonucleotides, Antisense)
SCR Disease Name: Limb-girdle muscular dystrophy, type 2B
تواريخ الأحداث: Date Created: 20240619 Date Completed: 20240619 Latest Revision: 20240620
رمز التحديث: 20240620
مُعرف محوري في PubMed: PMC11171558
DOI: 10.3390/ijms25115572
PMID: 38891760
قاعدة البيانات: MEDLINE
الوصف
تدمد:1422-0067
DOI:10.3390/ijms25115572