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Myotubularin: Addition comments

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    MessageJanice Just a note to say thank you for sharing your findings with everyone - regarding the comments made about Myotubularin, I thought I would add the
    Message 1 of 1 , Jun 30 12:12 PM
      Just a note to say thank you for sharing your findings with everyone - regarding the comments made about Myotubularin, I thought I would add the following, which is included on my website.
      Defects in the gene for this protein account for X-linked cases of Centronuclear / Myotubular Myopathy. The myotubularin protein is an enzyme whose function is required for proper development of muscle cells.
      Research Developments:
      (All information and comments kindly supplied by Sharon E. Hesterlee, Ph.D. Director of Research Development, Muscular Dystrophy Association, Arizona)

      Projects that have passed review by the MDA medical and scientific advisory committees

      Peter Harte, Ph.D., Case Western Reserve University (Cleveland, OH) "Genetic and biochemical investigation of Drosophila MTM1 function".

      Summary: Genetic and biochemical investigations of the drosophila (fruit fly) MTM1 gene will help to understand the mechanisms underlying how and why human MTM1 gene mutations lead to the development of myotubular myopathy.
      Gail Herman, M.D., Ph.D., Ohio State University (Columbus, OH) " Molecular studies of x-linked myotubular myopathy (MTM)

      Summary: This research will examine the role of the myotubularin protein in normal muscle development and why mutations in its gene cause the human muscle disorder x-linked MTM.

      Other Myotubular Myopathy Research

      These researchers aren’t funded by MDA (USA) but their work appears to be relevant to myotubular myopathy. The last author is usually the one to contact and this person can be reached at the address listed below the authors. For example, in the first article, you would address your inquiry to Dr. JL Mandel at Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS/INSERM/ULP, Strasbourg, France.

      Diagnosis of X-linked myotubular myopathy by detection of myotubularin. Laporte J, Kress W, Mandel JL. Institut de Genetique et de Biologie Moleculaire et Cellulaire, CNRS/INSERM/ULP, Strasbourg, France.

      Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity. Walker DM, Urbe S, Dove SK, Tenza D, Raposo G, Clague MJ. Physiological Laboratory, University of Liverpool, Crown Street, L69 3BX, Liverpool, United Kingdom.

      Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system. Dorchies OM, Laporte J, Wagner S, Hindelang C, Warter J, Mandel J, Poindron P. Laboratoire de Pathologie des Communications entre Cellules Nerveuses et Musculaires (UPRES 2308), UFR des Sciences Pharmaceutiques, BP 24, 74 route du Rhin, 67401 Cedex,., Illkirch, France

      Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations. Sutton IJ, Winer JB, Norman AN, Liechti-Gallati S, MacDonald F. Department of Neurology, Queen Elizabeth Hospital, Birmingham, UK. iansutton@...

      Inaugural article: myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate. Taylor GS, Maehama T, Dixon JE. Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, MI 48109-0606, USA.
      ----- Original Message -----
      Sent: Wednesday, June 30, 2004 2:53 PM
      Subject: [Myotubular_Myopathy] Feedback from MDF Presentation Yesterday

      I spent a thoroughly informative discussion yesterday re genetics and genetic foundation of MD. The good news is that there seems to be some hope for those suffering from Duchenne (DMD). They are getting ready to start clinical trials on "velcro" patches which attach to the RNA and aid in the production of dysrophin which will lessen the severity of some cases DMD. Although this has no relevance to us - our version is cause by a a defect in myotubularin (They've established that X-linked myotubular myopathy is caused by defects in a previously unknown protein called myotubularin), and DMD and Beckers is caused by defects in dystrophin, the fact is they are getting somewhere!!!!! This was not a cure, but a treatment to lessen the effects of DMD.
      The Prof had a brilliant way of explaining DNA and the way genetics work. Although the topic is so complicated and there was so much information. They said that the Dystrophy gene was only isolated 13 years ago, and you think how far they have come. For the first time, I have hope. Not necessarily for Matthew - I think they are some way off from understanding MTM (infact they had never heard of it - until I said Centro nuclear), but for other sufferers out there, for future generations.
      I do have his e-mail address and he has agreed that should Jessica want to contact him to get some info (he is based in Western Australia - Perth), she is more than welcome to. So Jess, let me know.
      He also was violently opposed to Muscle Biopsies. They do blood/molecular analysis and in some more "common" cases of MD, just cheek swabs like in CSI. They will do needle biopsies if they are unfamiliar with the genetic profile. At the moment he says the best lab analysis is in Salt Lake City, and he is collaborating with the responsible person there, and within 8 months - The Centre for Neuromuscular and Neurological Disorders at UWA will have the most sophisticated lab in the world. Like I said above, many times I think that so much has been done to find a cure for AIDS and cancer, and there is not much focus on MD. This was the first time that I have felt that maybe they are getting somewhere. For those of you who have the stomach for the pure medical analysis - he referred me to OMIM and you type in Myotubular Myopathy and you can see the latest research.
      Anyway, God Bless and keep strong


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