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Duchenne Muscular Dystrophy and Utrophin Iona Ross BME 281 November 29, 2011 About DMD 1 out of every 3500 male infants One of the 9 types – most common Rapid weakening of muscles Mental retardation/ poor motor skills Life expectancy: 20-30 yrs. Mutant gene for dystrophin – protein Internal Muscular Differences Left – normal Middle – DMD Loss of exons mRNA translates what it can Missing exons lead to frameshift/translation error – lack of dystrophin/protein http://www.childrensnational.org/research/OurResearch/TranslationalResearch/CGMR/MuscularDystrophy.aspx A little history… Pre 21st century – inject more dystrophin? Mice testing – rejected by immune system 2003 – 3 main processes to treat DMD I focused on injection of utrophin Why utrophin? Structurally and functionally very similar – both proteins, hold muscle tissue together “Well-known” by the body Body tissues and muscles As fetus – dispersed over much of the muscle Toddler – gradually replaced by dystrophin Once mature – neuromuscular/myotendinous junctions Widely effective Healthy dystrophin genes Top – most common Middle – results of lab mice testing <http://duchenne.plant.nl/media/doc/nrg1003.pdf> Red N-terminal and yellow dystrophin portion – not essential Green cysteine-rich region – v. important Blue C-terminal – can be shorter; correct patterns are important Bottom – utrophin gene Utrophin tests Prior to 2008 – utrophin injected into muscles of mice; widespread effect October 2008 – scientists at Univ. of Minnesota Injected utrophin into leg muscles of dog Widespread effect Only nine times smaller than a human! Future Short-term Human testing Pill that administers utrophin at regular intervals Long-term Cure! Already talk of altering genes at birth before utrophin is taken over by dystrophin References "Duchenne Muscular Dystrophy (DMD) - Welcome to MDA, Helping Jerry's Kids." Welcome to MDA | Muscular Dystrophy Association. Web. 27 Nov. 2011. <http://www.mda.org/disease/dmd.html>. "Duchenne Muscular Dystrophy: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of Health. Web. 27 Nov. 2011. <http://www.nlm.nih.gov/medlineplus/ency/article/000705.htm>. "Hurdles For Muscular Dystrophy Therapy Cleared." Science Daily: News & Articles in Science, Health, Environment & Technology. Web. 27 Nov. 2011. <http://www.sciencedaily.com/releases/2008/10/081029104313.htm>. "MDA Research | Utrophin Gene Therapy Benefits DMD Mice." Welcome to MDA | Muscular Dystrophy Association. Web. 27 Nov. 2011. <http://www.mdausa.org/research/070817dmd-mice-utrophin.html>. "New Muscular Dystrophy Therapy - Biotechnology - an ELab Article at Scientist Live." Scientist Live - the Latest Science News and Opinion. Web. 27 Nov. 2011. <http://www.scientistlive.com/European-ScienceNews/Biotechnology/New_muscular_dystrophy_therapy/22466/>. Van Deutekom, Judith C.T, and Gert-Jan B. Van Ommen. "Advances in Duchenee Muscular Dystrophy Gene Therapy." Web. 27 Nov. 2011. <http://duchenne.plant.nl/media/doc/nrg1003.pdf>.