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 | | Dystrophin in brain is transcribed from a different promoter from that used in muscle. | | | The 12% of dystrophin revertant fibers that was observed by immunohistochemistry could be sufficient to ameliorate typical DMD, or the patient might represent a somatic mosaic. | | | Immunocytochemical analysis of dystrophin in the MYOD-converted muscle cells is an effective way of demonstrating dystrophin deficiency. |
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http://www.leoonline.org/edv/duchenne.txt
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| | Duchenne muscular dystrophy and dystrophin: pathogenesis and opportunities for treatment |
| | Dystrophin has a major structural role in muscle as it links the internal cytoskeleton to the extracellular matrix. | | | Bonuccelli and coworkers ( Bonucelli et al, 2003) explored the use of proteasome inhibitors as a therapy for DMD on the premise that, in the absence of dystrophin, members of the DAPC are degraded through an unknown pathway that leads to their reduction in dystrophic muscle. | | | Increased knowledge of the function of dystrophin and its role in muscle has led to a greater understanding of the pathogenesis of DMD. |
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http://www.nature.com/embor/journal/v5/n9/full/7400221.html
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| | CMGS-Dystrophin gene/08.02 |
| | However in contrast to dystrophin it is expressed at significant levels in most tissues and in muscle is specifically expressed at the neuromuscular synapse. | | | Dystrophin is present in a rib-like arrangement encircling the muscle fibre giving it strength and flexibility. | | | Caveolin-3 is a muscle specific form of the caveolin family that co-purifies with the DAG complex, but is not an integral member. |
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http://www.ich.ucl.ac.uk/cmgs/dmdgene99.htm
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| | Dystrophin isoforms and their expression |
| | Total dystrophin expression levels in brain are in the range of 1-2% of those in muscle. | | | Depending on the technique used, it can be very difficult to discriminate between all dystrophin isoforms. | | | Throughout these pages, we have used a specific nomenclature to describe the individual dystrophin isoforms. |
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http://www.dmd.nl/isoforms.html
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| | Workshop on Therapeutic Approaches for Duchenne Muscular Dystrophy - Presentation Summaries: National Institute of ... |
| | Dystrophin concentration was analyzed by Western blot analysis. | | | This raises the concern that introduction of dystrophin into the muscles of DMD patients will lead to immune rejection of corrected fibers. | | | These and other results suggest a new function for dystrophin in stabilizing costameric actin, which might influence the macromolecular organization or the mechanical function of the costamere. |
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http://www.ninds.nih.gov/news_and_events/proceedings/dmdsessionsummary.htm
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| | txt001dwl: Immunological hurdles in the path to gene therapy for Duchenne muscular dystrophy |
| | There is clear evidence that de novo expression of dystrophin can act as an antigen capable of stimulating a cytotoxic immune response, and this is a serious problem for all therapeutic strategies that aim to restore dystrophin expression in DMD patients. | | | The results of the study by Ferrer and colleagues (Ref. 57) suggest that, with careful patient selection, it might be possible to avoid anti-dystrophin immune responses in early clinical trials without the need to complicate the analysis with the use of immunosuppressive drugs. | | | The adenoviral transfer of utrophin to immunocompetent mature mdx animals produced significant improvement in the ability of the treated soleus muscle to contract and generate force and to resist stress-induced injury, which was not achieved with a similar minidystrophin construct as a result of an immune response (Ref. 106). |
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http://www-ermm.cbcu.cam.ac.uk/0200515Xh.htm
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| | Muscular Dystrophy Campaign |
| | If immune responses to dystrophin are going to be an issue one may require immunosuppressive therapy to prevent the dystrophin from being broken down. | | | This would not be an issue if utrophin were found to be a suitable alternative to dystrophin, but this has yet to be proved in humans. | | | There is, at present, no cure for Duchenne muscular dystrophy but there have been several significant research advances over the past couple of years, bringing our ultimate goal of a therapy closer. |
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http://www.muscular-dystrophy.org/research/research_reviews/duchenne.html
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| | MDA / Quest 5-2 / Utrophin Strategies Excite Duchenne Researchers |
| | Recent experiments have shown that utrophin could probably do the same thing that dystrophin does all around the border if it could be delivered to these areas. | | | The technical word for this increase is "upregulation." This natural upregulation doesn't seem to increase utrophin enough to protect dystrophin-deficient muscles from degenerating, but a therapy that increased utrophin still more would probably provide adequate compensation, researchers say. | | | These experiments were interpreted to mean that utrophin has a compensating effect in dystrophin-deficient muscles. |
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http://www.mdausa.org/publications/Quest/q52utrophin.html
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| | Dystrophinopathies: Duchenne + Becker muscular dystrophy |
| | Functional consequences of loss of dystrophin on muscle fibers | | | Severity and onset age correlate with muscle dystrophin levels | | | Dystrophin Localization: Subsarcolemmal region in skeletal and cardiac muscle |
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http://www.neuro.wustl.edu/neuromuscular/musdist/dmd.html
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| | part02 |
| | One study examined the possibility of using myoblast transfers as dystrophin replacements (Mendell et al. | | | There was no improved muscle strength (Mendell et al. | | | The malfunction of the protein dystrophin is responsible for the symptoms of DMD. |
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http://www.creighton.edu/~gbudke/part02.html
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| | Louis M. Kunkel |
| | The level of engraftment into the muscle was very low (less than 1 percent). | | | One interesting observation about muscular dystrophy in humans is the variability in response to absent proteins such as dystrophin, which is normally expressed in all muscles. | | | In muscle from human DMD patients, more than 160 genes are increased in their expression level, and 40 are decreased. |
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http://www.hhmi.org/research/investigators/kunkel.html
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| | Parent Project Muscular Dystrophy - What causes DMD |
| | In either disorder, muscle cells within the body gradually weaken and eventually die, without fully functional dystrophin. | | | Dystrophin acts as the glue that holds muscles together by maintaining the structure of muscle cells. | | | Dystrophin is also believed to carry signals between the inside and outside of muscle fibers. |
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http://www.parentprojectmd.org/dmd/what.html
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| | When and where the gene is expressed |
| | No induction was observed in mouse C2 or rat L6 myoblasts, but high levels of CAT expression occurred in rat H9C2(2-1) myotubes. | | | Dystrophin is expressed primarily in skeletal muscle, during myoblast to myotube transition, but is also found in the brain and, to a lesser extent, in other non-muscle tissues. | | | Dystrophin is activated at the early stages of myogenesis, and increases during development; embryonic and newborn skeletal and adult smooth muscle tissues contain very little dystrophin mRNA relative to adult skeletal and cardiac muscle. |
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http://www.cbil.upenn.edu/MTIR/dys-when.html
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| | U-M's "gutted virus" delivers dystrophin to muscles of adult mice with muscular dystrophy |
| | For seven years, Chamberlain and his U-M colleagues have been confronting the daunting technical obstacles to an effective gene therapy treatment for muscular dystrophy and finding ways to overcome them. | | | The dystrophin gene is the largest ever identified, which greatly complicates researcher's efforts to develop an effective gene therapy for the disease. | | | The se verity of symptoms correlates with the degree to which expression of dystrophin is impaired. |
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http://www.umich.edu/~urecord/9798/Nov05_97/virus.htm
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| | Dystrophin |
| | dystrophin isoforms: how they arise and their nomenclature | | | The isoforms are encoded by a range of different mRNA's which are generated by three processes; (i) the use of different, unique and often tissue-specific promoters, (ii) alternative splicing, and (iii) the use of different polyA-addition signals. | | | dystrophin exons: their position in the cDNA, their numbering, sizes and genomic spacing |
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http://www.dmd.nl/DMD_home.html
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| | Kevin P. Campbell |
| | Thus, through its interactions with laminin and dystrophin, dystroglycan acts as a transmembrane link between the extracellular matrix and the cytoskeleton. | | | Muscular dystrophies are a group of genetic diseases that primarily affect skeletal muscle and are characterized by progressive muscle weakness. | | | Research in my laboratory on the function of dystrophin led to the identification and purification of the skeletal muscle dystrophin-glycoprotein complex (DGC), which provides an essential structural link between the actin cytoskeleton and the extracellular matrix. |
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http://www.hhmi.org/research/investigators/campbell.html
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| | Expression patterns of dystrophin products, especially of apodystrophin-1/Dp71, in the neural retina of Amphibian ... |
| | Our findings raised the question concerning the functional significance of Dp71 isoforms, especially at the myoid where Dp71 was detected for the first time, although it occurred here highly expressed. | | | Putative role(s) played in this retinal compartment and other ones by Dp71 and/or other dystrophin isoforms were discussed. | | | Expression patterns of dystrophin products, especially of apodystrophin-1/Dp71, in the neural retina of Amphibian urodele Pleurodeles waltl |
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http://www.ijdb.ehu.es/abstract.enero99/43_1_9.htm
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| | CMGS-Structure and Function of the Duchenne Muscular Dystrophin Gene/14.1.99 |
| | Dystrophin deficiency in DMD/BMD patients can also result in depletion of these associated proteins, suggesting that dystrophin may be responsible for the correct formation of the complex. | | | Neuronal nitric oxide synthase may also be associated with syntrophins. | | | However, the absence of dystrophin alters the mechanical properties of the muscle cell surface and leads to long-term accumulation of effects such as modified state of ion channels, abnormal fluxes of substances caused by mechanical wounding and a change in mechanotransduction of growth signals. |
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http://www.ich.ucl.ac.uk/cmgs/dmdgene98.htm
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| | eMedicine - Dystrophinopathies : Article by David J Altman, MD |
| | Two methods are available for assessing dystrophin in muscle tissue. | | | Since dystrophin is found in the heart and brain, these organs are affected as well. | | | The most accurate method for differentiating DMD from BMD is by immunoblot of muscle homogenates. |
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http://www.emedicine.com/neuro/topic670.htm
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| | University of Utah Muscular Dystrophy |
| | Several clinical laboratories test for these types of deletions using a multiplex PCR technique. | | | Mutation Analysis of the Dystrophin Gene for Dystrophin-Related Diseases | | | Testing may be available to you at no cost if you participate in a research project funded by the National Institutes of Health, called "Translational Research in the Dystrophinopathies". |
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http://www.genome.utah.edu/DMD/index.shtml
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| | Dystrophin - Wikipedia, the free encyclopedia |
| | Normal tissue contains small amounts of dystrophin (about 0.002% of total muscle protein), but its absence leads to both DMD and fibrosis, a condition of muscle hardening. | | | Dystrophin is a protein found in membranes surrounding individual | | | This page was last modified 16:11, 27 Mar 2005. |
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http://en.wikipedia.org/wiki/Dystrophin
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| | Profile |
| | We believe that the dystrophin complex serves not only a structural role in skeletal muscle, but a signaling function as well, and that these functions are localized to sites of membranespecialization. | | | Our recent finding that expression of utrophin, a close homologue of dystrophin, depends on expression of alpha-syntrophin is also potentially important in therapeutic approaches to Duchenne muscular dystrophy (DMD). | | | The dystrophin complex is highly concentrated postsynaptically at the neuromuscular junction, and at some central nervous system synapses. |
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http://myprofile.cos.com/froehner
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| | Dystrophin |
| | Please send any questions or comments about the Human Protein Reference Database to help | | | You are at: Home » Proteins »; Dystrophin |
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http://www.hprd.org/protein/02303
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