Muscular dystrophy is a group of complicated, genetically heterogeneous disorders characterized by progressive muscle weakness and degeneration. Due to the intricate nature, understanding the molecular mechanisms underlying muscular dystrophy presents significant challenges. , as a versatile and genetically tractable model organism, offers substantial advantages in muscular dystrophy research. In the present review, we summarize the application of in studying various types of muscular dystrophy, highlighting the insights gained through genetic manipulations, disease modeling, and the exploration of molecular pathways. serves as a powerful system for understanding disease progression, exploring the roles of key genes in muscle function and pathology, and identifying novel therapeutic targets. The review highlights the significant role of in advancing our understanding of muscular dystrophy.
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http://dx.doi.org/10.3390/ijms26041459 | DOI Listing |
Int J Mol Sci
March 2025
Department of Pediatrics, Hyogo Medical University, 1-1 Mukogawacho, Nishinomiya 663-8501, Japan.
Since 2016, splice-switching therapy, in which splicing is controlled by antisense oligonucleotides, has been applied in clinical practice for spinal muscular atrophy and Duchenne muscular dystrophy. In the former disease, this therapy induces exon inclusion, while, in the latter, it induces exon skipping, leading expression of functional proteins. Basic and clinical studies of splice-switching therapy for many monogenic diseases have now been conducted.
View Article and Find Full Text PDFBalkan J Med Genet
December 2024
Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Optical genome mapping (OGM) is a novel method enabling the detection of structural genomic variants. The method is based on the laser image acquisition of single, labeled, high-molecular-weight DNA molecules and can detect structural genomic variants such as translocations, inversions, insertions, deletions, duplications, and complex structural rearrangements. We aim to present our experience with OGM at the Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Slovenia.
View Article and Find Full Text PDFJ R Soc Interface
March 2025
Nanobioengineering Group, Institute for Bioengineering of Catalonia (IBEC), The Barcelona Institute for Science and Technology (BIST), Barcelona, Spain.
Changes in the mechanical properties of the extracellular matrix (ECM) are a hallmark of disease. Due to its relevance, several models have been developed for the ECM, including cell-derived matrices (CDMs). CDMs are decellularized natural ECMs assembled by cells that closely mimic the stromal fibre organization and molecular content.
View Article and Find Full Text PDFOrphanet J Rare Dis
March 2025
TRS National Resource Centre for Rare Disorders, Sunnaas Rehabilitation Hospital, Bjørnemyr, Norway.
Background: This cross-sectional study investigated mental health conditions, physical functioning, and health-related quality of life (HRQOL) in adults with short-statured skeletal dysplasia conditions across three centres; in New York, Newcastle-upon-Tyne and Norway.
Methods: Questionnaires were sent to patients registered at the centres or distributed to adults attending clinics. The questionnaires included demographics, medical history, depression (PHQ-8), anxiety (GAD-7), pain catastrophizing, activities of daily living (HAQ), and HRQOL (SF 36/RAND-36 and PROMIS-29).
Orphanet J Rare Dis
March 2025
Peripheral Nervous System and Muscle Department, Reference Center for Neuromuscular Disorders, Pasteur 2 Hospital, Centre Hospitalier, Universitaire de Nice, Nice University Hospital, SNPM - Hôpital Pasteur 2 - 30 voie Romaine, 06001, Nice CEDEX, France.
Background: Myasthenia gravis (MG) is a rare autoimmune disorder. Several new treatment concepts have emerged in recent years, but access to these treatments varies due to differing national reimbursement regulations, leading to disparities across Europe. This highlights the need for high-quality data collection by stakeholders to establish MG registries.
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