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The Cause For Run America I in 2002, we ran and biked in honor of a friend of ours, Barry Wald, who has this disease. Many of us had run with Barry on the "Endangered Species," a twelve person relay team that has completed the Oregon Hood-to-Coast relay (a 200 mile running relay from Mt. Hood to the Oregon Coast) eight times and which also twice tackled the Providean Relay in California (from Calistoga to Santa Cruz). Others have known Barry since high school. We continue to run in Barry’s honor but are highly encouraged by the research progress we have helped enable from Run America I and II.. We now embrace the broader goal of helping all individuals and their families affected by the disease. The disease is hereditary and also tends to become more serious in successive generations. To see a picture of Barry with Craig Johnston and another friend, please click here Myotonic dystrophy myotonic dystrophy Muscular Dystrophy Campaign Congenital myotonic dystrophy Myotonic Dystrophy (DM) (aka Steinert's Disease) | MDA Myotonic Dystrophy Support Group Myotonic dystrophy: Pathology Myopathies without EOM Weakness: Facioscapulohumeral + Myotonic ... Progress Report: Development of therapies for Myotonic Dystrophy The project is based on the concept that symptoms of myotonic dystrophy result from a toxic effect of RNA that accumulates from the myotonic dystrophy protein kinase (DMPK) gene Myotonic dystrophy (DM) is the first example of a disease in humans, or any other species, in which symptoms are caused by toxicity of a repetitive RNA. This RNA becomes toxic for muscle cells because it contains an expanded CUG repeat (poly(CUG)) generated from the DNA triplet repeat in the DMPK gene. Project work over the last 24 months suggests clinical DM occurs because this poly(CUG) binds to the nuclear protein Muscleblind 1 (Mbnl1), and Mbnl1 is “sequestered” so that it cannot perform its normal function. Other supporting work has demonstrated that “knockout” mice (with an engineered lesion which eliminates Mbnl1 protein in muscle and heart cells), develop a disease that is quite similar to myotonic dystrophy in humans. Additional preliminary data suggests that expressing Mnbl1 proteins at high levels, so that some Mnbl1 is no longer sequestered by poIy(CUG), can reverse signs of the disease in transgenic mice that have myotonic dystrophy. These very recent observations lead to the surprising provisional conclusion that many, if not all, signs of muscular dystrophy may result from the sequestration of a single protein, Mbnl1 by poly(CUG). From the therapeutic perspective, the development is extremely encouraging. Initially the symptoms of myotonic dystrophy were suspected to result from the interaction of several or many different proteins with the poly(CUG) RNA, and that attempts to block each of these interactions would be unsuccessful. For this reason, the initial focus was to find ways to accelerate the removal of poly(CUG) RNA from the cell. However there is now this second promising avenue to screen for compounds that block the poly(CUG) RNA-Mbnl1 interaction. Research in both these approaches will be supported by Run America over the next 18 months.
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(left to right Craig Johnston, Nick Burns, Barry Wald).