We understand the gene mutations, the effects on dystrophin, and many features of the biochemical role of dystrophin in muscle. Indeed, the identification of the dystrophin gene and protein heralded the era of human disease genomics that has dramatically increased our understanding of human genetic disease. However, we do not understand the downstream consequences of dystrophin deficiency in a cell and its surrounding tissue.
Why is the heart relatively spared until quite late in the disease process? DMD therapeutics may require multidrug regimens, yet such multidrug approaches pose challenges with regard to both pharmaceutical development and regulatory pathways.
The author thanks Louis Kunkel for serving as an outstanding mentor and for the opportunity to join his laboratory. National Center for Biotechnology Information , U. The Febs Journal. FEBS J. Published online Jul Eric P.
Hoffman 1. Author information Article notes Copyright and License information Disclaimer. Hoffman, Email: ude. Corresponding author. Received Jun 12; Accepted Jun This article has been cited by other articles in PMC. Abstract Duchenne muscular dystrophy is the most common neuromuscular genetic disorder.
Keywords: Duchenne muscular dystrophy, dystrophin, membrane cytoskeleton, skeletal muscle. Open in a separate window. The transition to therapy The identification of the DMD gene and dystrophin protein led to hopes for new therapeutic approaches that addressed the primary defect. Becker muscular dystrophy I think the discoveries regarding the clinically milder Becker muscular dystrophy BMD have been illuminating at multiple levels.
Summary Looking forward, the enormous DMD gene and enigmatic dystrophin protein will continue to present us with challenges in our efforts to understand the biology, and aid patients via therapeutics. Acknowledgements The author thanks Louis Kunkel for serving as an outstanding mentor and for the opportunity to join his laboratory.
References 1. Am J Hum Genet 33 , — Nature , — Nature , 73— Science , — Cell 50 , — Cell 53 , — J Biol Chem , — Cell 51 , — Cell 54 , — Western blot analysis using a monoclonal antibody. Learn more. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. DMD gene dystrophin. From Genetics Home Reference.
Normal Function DMD , the largest known human gene, provides instructions for making a protein called dystrophin. More About This Health Condition. X-linked dilated cardiomyopathy More than 30 mutations in the DMD gene can cause an X-linked form of familial dilated cardiomyopathy. Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule.
Muscle Nerve. Brain function in Duchenne muscular dystrophy. Duchenne muscular dystrophy: current knowledge, treatment, and future prospects. Clin Orthop Relat Res. The novel method of reverse genetics was therefore a turning point for genetics. From this discovery followed the first maps of the human genome, between and , and then, more recently, several therapeutic methods, which now benefit other diseases.
Indeed, the dystrophin gene being the largest known human gene, researchers were led to develop different therapeutic strategies, among which gene therapy or pharmacogenetics. What is the life expectancy in DMD? What is the status of DMD research? Parsippany, NJ. Ryder, S. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: An evidence review.
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