Dystrophin

A muscle protein localized in surface membranes which is the product of the Duchenne/Becker muscular dystrophy gene. Individuals with Duchenne muscular dystrophy usually lack dystrophin completely while those with Becker muscular dystrophy have dystrophin of an altered size. It shares features with other cytoskeletal proteins such as SPECTRIN and alpha-actinin but the precise function of dystrophin is not clear. One possible role might be to preserve the integrity and alignment of the plasma membrane to the myofibrils during muscle contraction and relaxation. MW 400 kDa.

Networked: 4256 relevant articles (85 outcomes, 256 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Duan, Dongsheng: 67 articles (01/2022 - 03/2002)
2.	Takeda, Shin'ichi: 66 articles (01/2022 - 03/2002)
3.	Chamberlain, Jeffrey S: 63 articles (01/2022 - 03/2002)
4.	Muntoni, Francesco: 58 articles (08/2022 - 07/2002)
5.	Matsuo, Masafumi: 56 articles (01/2022 - 01/2002)
6.	Aartsma-Rus, Annemieke: 54 articles (01/2022 - 10/2002)
7.	Yokota, Toshifumi: 46 articles (02/2022 - 05/2002)
8.	Ohlendieck, Kay: 43 articles (12/2021 - 02/2002)
9.	Davies, Kay E: 41 articles (08/2021 - 04/2002)
10.	Hoffman, Eric P: 40 articles (01/2022 - 01/2006)

Related Diseases

1.	Duchenne Muscular Dystrophy (Muscular Dystrophy, Becker) 02/01/2014 - "When transplanted into mdx mice models for Duchenne muscular dystrophy (DMD), the proposed muscle patches led to the formation of a significantly greater number of dystrophin-positive muscle fibers, indicating that dystrophin replacement and myogenesis is achievable in vivo with this approach. " 07/01/1997 - "Hopes ran high that a cure for Duchenne muscular dystrophy (DMD) would quickly follow the discovery of dystrophin by Lou Kunkel and his group in the 1980's. " 01/01/2023 - "In contrast to the long-standing focus on the pathophysiology of skeletal muscles in the hunt for a cure for Duchenne muscular dystrophy (DMD), we opine that the malfunctioning of dystrophin produced by vascular smooth muscle is a major contributor to the pathology of the illness. " 09/11/2020 - "In this study, we blindly compared therapeutic efficacy of an AAV9 micro-dystrophin vector generated by the TT method and scalable herpes simplex virus (HSV) system in a Duchenne muscular dystrophy mouse model. " 07/08/2007 - "Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by mutations of dystrophin gene, there is no effective treatment for this disorder at present. "
2.	Muscular Dystrophies (Muscular Dystrophy) 01/01/2017 - "Here we show that locoregional and systemic delivery of a rAAV2/8 vector expressing a canine microdystrophin (cMD1) is effective in restoring dystrophin expression and stabilizing clinical symptoms in studies performed on a total of 12 treated golden retriever muscular dystrophy (GRMD) dogs. " 01/04/2008 - "A cure for dystrophin-deficient muscular dystrophy requires treating both skeletal muscle and the heart. " 07/01/2003 - "Expression of dystrophin driven by the 1.35-kb MCK promoter ameliorates muscular dystrophy in fast, but not in slow muscles of transgenic mdx mice." 02/01/1998 - "Elucidating the mechanisms leading to cell death may help to explain the variabilities in disease expression that are seen as a function of age, among different muscles, and across species in animals with muscular dystrophy due to dystrophin deficiency." 10/08/2020 - "This study revealed a spontaneous partial deletion in DMD gene in a Jack Russell Terrier showing a Duchenne-type muscular dystrophy due to non-functional dystrophin."
3.	Cardiomyopathies (Cardiomyopathy) 09/01/2018 - "We identified a novel dystrophin mutation (p.1667 del Ala), resulting in BMD-associated cardiomyopathy that demonstrated the pathological features of significant fibrofatty replacement in the sub-epicardial layer of the ventricle; further, the high-throughput sequencing is helpful for making an early diagnosis of BMD." 01/01/2022 - "The combination of induced pluripotent stem cells-derived cardiovascular cell types and 3D bioprinting technologies hold great promise for the study of dystrophin-linked cardiomyopathy. " 03/09/2023 - "This study supports micro-dystrophin gene therapy as a promising intervention for preventing DMD cardiomyopathy progression." 07/01/2015 - "CtermDys gene titration and dystrophin replacement studies further established a target threshold of 50% membrane-bound intact dystrophin necessary to prevent mice from CtermDys cardiomyopathy. " 04/01/2014 - "Our study aimed to elucidate which dystrophin levels in the heart are required to prevent or delay cardiomyopathy in mice. "
4.	Necrosis 04/01/2001 - "However, the exact functions of dystrophin are still not fully understood and the complex process leading to subsequent muscle fiber necrosis has not been clearly described; hence there has not yet been any marked improvement in patient treatment. " 04/01/2002 - "These results suggest that a combination of promoting muscle regenerative capacity and preventing muscle necrosis could be an effective treatment for the secondary symptoms caused by the primary loss of dystrophin." 04/15/2006 - "To explore the mechanisms of myofiber necrosis in dystrophin-deficient muscle, we tested the hypothesis that restoration of this complex without a link to the cytoskeleton ameliorates dystrophic pathology. " 03/01/1999 - "This study shows that limb immobilization prevents the occurrence of the first round of myofiber necrosis in mdx mice and suggests that muscle contractions play a role in the skeletal muscle degeneration of dystrophin-deficient mdx mouse muscles." 11/01/1995 - "This review discusses critically the results of these studies and their relevance to understanding the mechanisms by which dystrophin-deficiency leads to muscle necrosis."
5.	Disease Progression 01/01/2016 - "So far, data from DMD clinical trials have shown limited success in delaying disease progression; unforeseen obstacles included immune response against the generated mini-dystrophin, inconsistent evidence of dystrophin production in muscle biopsies, and failure to demonstrate a significant improvement in the primary outcome measure, as defined by the 6-minute walk test in some studies. " 06/01/2014 - "Together, these studies demonstrate that stable overexpression of miR-486 ameliorates the disease progression of dystrophin-deficient skeletal muscle. " 03/28/2023 - "Thus, spectral imaging could be implemented to measure dystrophin expression and it could pave the way for detailed analysis of how its expression relates to the clinical course. " 01/01/2023 - "Multiomic characterization of disease progression in mice lacking dystrophin." 01/01/2023 - "Variation in clinical presentation, the rate of disease progression, and treatment responsiveness have been observed amongst DMD patients, suggesting that factors beyond the loss of dystrophin may contribute to DMD pathophysiology. "

Related Drugs and Biologics

1.	Proteins (Proteins, Gene)
2.	Utrophin
3.	Glycoproteins (Glycoprotein)
4.	Antisense Oligonucleotides
5.	Dystroglycans (Dystroglycan)
6.	Complementary DNA (cDNA)
7.	Laminin (Merosin)
8.	Carrier Proteins (Binding Protein)
9.	Morpholinos
10.	Sarcoglycans (beta Sarcoglycan)

Related Therapies and Procedures

1.	Therapeutics
2.	Transplantation
3.	Cell- and Tissue-Based Therapy (Cell Therapy)
4.	Aftercare (After-Treatment)
5.	Low-Level Light Therapy (LLLT)