Duchenne and Becker muscular dystrophy

Duchenne and Becker muscular dystrophy

Duchenne and Becker muscular dystrophy.pptx

목차 1.History and disease 2.Protein 3.Gene 4.DMD & BMD 5.Animal model & Research 6.Therapy 본문 History The first historical account of MD was reported by Conte and Gioja in 1836 Guillaume Duchenne - first case of MD. Professor Becker - a less severe form of muscular dystrophy in 1955 What is Muscular Dystrophy? (MD) Muscular Dystrophy (MD) is a group of muscle diseases that weaken the musculoskeletal system The main cause : the muscle tissue s cytoskeletal impairment to properly create the functional protein dystrophin MUSCULAR DYSTROPHY CHARACTERISTICS 1. Genetic, i.e. heritable (even if there are no other cases in family). 2. It is primary myopathy (as defined by clinical, histologic, and EMG criteria). 3. No histologic abnormalities other than degeneration and regeneration of muscle fibers + reaction to those changes (infiltration by fat and connective tissue); no abnormal storage of metabolic products. 4. All symptoms are effects of striated muscle weakness (heart and visceral muscles may also be involved). 5. Weakness becomes progressively worse (i.e. not static vs. congenital myopathies, metabolic myopathies). 참고문헌 The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy- Fiona LM Norwood1†, Andrew J Sutherland-Smith1†*, Nicholas H Keep1,2 and John Kendrick-Jones1 Function and Genetics of Dystrophin and Dystrophin-Related Proteins in Muscle - DEREK J. BLAKE, ANDREW WEIR, SARAH E. NEWEY, AND KAY E. DAVIES Medical Research Council, Functional Genetics Unit, Department of Human Anatomy and Genetics, University of Oxford, Oxford, United Kingdom The natural history of Duchenne muscular dystrophy.Analysis of data from a Dutch survey and review of age related events - Anthonie J. van Essen1, Joke B.G.M. Verheij1, Jennita Reefhuis1, Vaclav Fidler2, Jacobus H. Begeer3, Marianne de Visser4, Leo P. ten Kate5 Blau, H. M., Webster, C., Pavlath, G. K.Defective myoblasts identified in Duchenne muscular dystrophy.Proc. Nat. Acad. Sci. 80: 4856-4860, 1983. PubMed: 6576361, related citations Full Text: HighWire Press Duchenne Muscular Dystrophy-Marek Michalak, University of Alberta, Edmonton, Alberta, Canada Michal Opas, University of Toronto, Toronto, Ontario, Canada Borresen, A. L., Heiberg, A., Moller, P., Berg, K.Evidence for a sperm mutation resulting in Duchenne muscular dystrophy.Clin. Genet. 32: 187-191, 1987. PubMed: 2887319, related citations Genetic linkage relationships between the Xg blood group systemand two X chromosome DNA polymorphisms in families with Duchenne and Becker muscular dystrophy - M. Sarfarazi 1, P. S. Harper 1, H. M. Kingston 1, J. M. Murray 1 2, T. O Brien 1, K. E. Davies 2, R. Williamson 2, P. Tippett 3, and R. Sanger 3 Lovering RM, De Deyne PG. Contractile function, sarcolemmaintegrity, and the loss of dystrophin after skeletal muscle eccentriccontraction-induced injury. Am J Physiol Cell Physiol. 2004;286:C230 C238. Duchenne G. L'Electrisation Localisee at de son Application a la Pathologieat a la Therapeutique. Paris, France: Bailliere et Fils; 1861. McDonald CM, Abresch RT, Carter GT, et al. Profiles of neuromuscular diseases: Duchenne muscular dystrophy. Am J Phys Med Rehabil.1995;74:S70 S92. Brooke MH, Fenichel GM, Griggs RC, et al. Duchenne musculardystrophy: patterns of clinical progression and effects of supportive therapy. Neurology. 1989;39:475 481. Roland EH. Muscular dystrophy. Pediatr Rev. 2000;21:233 237. Metules T. Duchenne muscular dystrophy. RN. 2002;65:39 44, 47. Biggar WD, Gingras M, Fehlings DL, et al. Deflazacort treatment of Duchenne muscular dystrophy. J Pediatr. 2001;138:45 50. The Muscular Dystrophies: From Genes to Therapies Richard M Lovering, Neil C Porter and Robert J Bloch PHYS THER. 2005; 85:1372-1388. Bucher, K., Ionasescu, V., Hanson, J.Frequency of new mutants among boys with Duchenne muscular dystrophy.Am. J. Med. Genet. 7: 27-34, 1980. PubMed: 7211951, related citations PCR and immunocytochemical analyses of dystrophin-positive fibers in Duchenne muscular dystrophy-Makoto Uchino a, * , Makoto Tokunaga a, Shuji Mita a, Eiichiro Uyama a, Yukio Ando a, Hitoh Teramoto b, Teruhisa Miike ', Masayuki Ando a 키워드 오범죄특성과증오범죄원인및증오범죄사례증오범죄대책방안