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Austin - University of Texas Tobias Raabe, Ph.D. (DG) The role of RNA localization in myotonic dystrophy (MMD) $ 35,000.00 7/1/99 - 6/30/00 Year 2 Summary: The proposed research will focus on MMD, the most common form of muscular dystrophy to affect the adult population. MMD is caused by an alteration in a gene called MMD-kinase which encodes MMD-kinase protein. It is not well understood how this alteration can cause the disease, although this information is necessary to develop promising drugs for therapy. Researchers propose to test the hypothesis that the alteration causes DMD via a new molecular process called RNA localization. Dallas - University of Texas Southwestern Medical Center Richard G. W. Anderson, Ph.D. (RG) Structural studies of caveolin: Understanding limb- girdle muscular dystrophy (LGMD) pathogenesis $ 68,861.00 7/1/99 - 6/30/00 Year 1 $ 70,683.00 7/1/00 - 6/30/01 Year 2 $ 73,656.00 7/1/01 - 6/30/02 Year 3 Summary: The structural properties of normal and mutant caveolin-3 protein will be analyzed by nuclear magnetic resonance to determine the mechanism of LGMD type 1C pathogenesis. Richard J. Barohn, M.D. (EMG) Restricted funds for myasthenia gravis research $ 54,271.74 4/1/99 - 3/30/00 Year 1 Wilson Bryan, M.D. (EMG) Restricted funds for ALS research $ 54,271.74 4/1/99 - 3/31/00 Year 2 George N. DeMartino, Ph.D. (RG) Regulation of protein degradation by a novel proteasome inhibitor $ 65,000.00 7/1/99 - 6/30/00 Year 2 $ 65,000.00 7/1/00 - 6/30/01 Year 3 Summary: This research will investigate whether and how a newly discovered protein inhibits the action of a protease that causes muscles to atrophy. Jeffrey L. Elliott, M.D. (RG) Astrocytes in the pathogenesis of amyotrophic lateral sclerosis (ALS) $ 60,000.00 7/1/99 - 6/30/00 Year 2 $ 60,000.00 7/1/00 - 6/30/01 Year 3 Summary: Abnormal function of the SOD1 protein has been found to cause one form of familial ALS, although how this altered protein causes motor neuron death is still unknown. This project will determine whether altered SOD1 acts principally in cells other than motor neurons to initiate a cascade which ultimately leads to motor neuron death. Daniel J. Garry, M.D., Ph.D. (RG) Regulatory mechanisms of myogenic stem cells $ 76,264.00 7/1/99 - 6/30/00 Year 1 $ 76,632.00 7/1/00 - 6/30/01 Year 2 $ 74,683.00 7/1/01 - 6/30/02 Year 3 Summary: Researchers will study the regulation of the MNF gene to understand muscle stem cell biology. These studies should lead to the development of new therapies for Duchenne muscular dystrophy (DMD) and an increased understanding of the molecular mechanisms of skeletal muscle regeneration. Ronald Haller, M.D. (RG) Evaluation and treatment of metabolic myopathies $ 74,172.00 1/1/00 - 12/31/00 Year 3 Summary: Researchers will evaluate whether and by what means regular exercise improves exercise capacity in patients with mitochondrial or with glycolytic myopathies. Mark J. Henkemeyer, Ph.D. (RG) EPH family receptors and ligands in neurons and muscle cells $ 65,000.00 7/1/99 - 6/30/00 Year 2 $ 65,000.00 7/1/00 - 6/30/01 Year 3 Summary: Researchers propose experiments to help understand, in molecular terms, how motor axons migrate from the spinal cord to make their connections with skeletal muscle cells. Jane Johnson, Ph.D. (RG) Genetic regulation of spinal cord and cerebellum development $ 50,000.00 7/1/99 - 6/30/00 Year 3 Summary: The function and regulation of a specific class of regulatory genes controlling normal development of sensory neurons in the spinal cord and cerebellum will be investigated. Eric Olson, Ph.D. (RG) Transcriptional control of postnatal muscle development $ 60,000.00 1/1/00 - 12/31/00 Year 3 Summary: This research will contribute to an understanding of the molecules responsible for formation of skeletal muscle during early development and will provide insight into the basis for neuromuscular diseases in which normal processes of muscle development are disrupt. Galveston - University of Texas Premkumar Christadoss, M.D. (RG) Cytokine-mediated regulation of experimental myasthenia gravis (MG) $ 70,000.00 7/1/99 - 6/30/00 Year 1 $ 60,000.00 7/1/00 - 6/30/01 Year 2 $ 60,000.00 7/1/01 - 6/30/02 Year 3 Summary: The proposed studies will investigate the crucial role played by specific cytokines, which are involved in development of murine MG. The findings should lead to specific therapy of MG by down regulating specific cytokines. Owen Hamill, Ph.D. (RG) Kinetics of mechanosensitive channels in dystrophic muscle $ 55,125.00 7/1/98 - 6/30/00 Year 3 Summary: Whether abnormalities in the function and/or expression of stretch-sensitive channels in dystrophic muscle underlie susceptibility to stretch-induced muscle fiber degeneration will be determined. Houston - Baylor College of Medicine Stanley H. Appel, M.D. (RG) Immune mechanisms in amyotrophic lateral sclerosis (ALS) $ 68,515.00 7/1/99 - 6/30/00 Year 2 $ 71,256.00 7/1/00 - 6/30/01 Year 3 Summary: This project will investigate whether increased intracellular calcium is a common early change in motoneuron injury in ALS and whether the calcium-binding proteins calbindin DZ8K and/or parvalbumin can protect against such injury. Stanley H. Appel, M.D. (EMG) Restricted funds for the support of the Ronny and Linda Finger MDA/ALS Center $ 16,225.00 4/1/99 - 03/30/00 Year 2 Michael A. Barry, Ph.D. (RG) Development of muscle-targeting gene therapy vectors $ 60,000.00 7/1/99 - 6/30/00 Year 2 $ 60,000.00 7/1/00 - 6/30/01 Year 3 Summary: This project will develop "smart" gene therapy vectors that will seek out and target gene delivery to muscle cells as a measure to treat Duchenne and other muscular dystrophies. Thomas A. Cooper, M.D. (RG) Altered regulation of RNA processing in myotonic dystrophy (MMD) $ 65,000.00 1/1/00 - 12/31/00 Year 2 $ 65,000.00 1/1/01 - 12/31/01 Year 3 Summary: Researchers will attempt to reverse the effects of MMD. Henry Epstein, M.D. (RG) The filagenins: Novel proteins of muscle thick filaments $ 60,000.00 1/1/00 - 12/31/00 Year 2 $ 60,000.00 1/1/01 - 12/31/01 Year 3 Summary: Knowing how myosin, the protein motor for muscle contraction, becomes organized into filament structures will help in the design of effective therapies for the atrophy and weakness in muscular dystrophy and other neuromuscular disorders. (RG) Regulation of myotonic dystrophy (MMD) protein kinase $ 60,000.00 7/1/99 - 6/30/00 Year 1 $ 60,000.00 7/1/00 - 6/30/01 Year 2 $ 60,000.00 7/1/01 - 6/30/02 Year 3 Summary: MMD is a disease that affects various tissues at different ages in specific individuals. Researchers will study the roles of multiple signals in regulating the activity of MMD protein kinase, the protein product of the MMD locus. Understanding this regulation may also permit for development of drugs that increase or decrease the kinase activity. Margaret A. Goodell, Ph.D. (RG) Stem cell transplantation for therapy of neuromuscular disease $ 100,000.00 7/1/99 - 6/30/00 Year 1 $ 95,000.00 7/1/00 - 6/30/01 Year 2 Summary: Researchers will study the possibility that special bone marrow cells can contribute to muscle regeneration in mice. These cells circulate in the blood, so offer new routes of muscle disease therapy. Susan Hamilton, Ph.D. (RG) RYR1 in central core disease (CCD) and malignant hyperthermia (MH) $ 64,435.00 7/1/99 - 6/30/00 Year 2 $ 65,910.00 7/1/00 - 6/30/01 Year 3 Summary: This research is designed to determine how mutations in RYR1 produce CCD and MH by evaluating functional roles of the two parts of the protein where the mutations occur. Feizhou Liu, Ph.D. (RF) Proteins regulating muscle filament assembly $ 35,000.00 4/1/99 - 3/31/00 Year 2 Summary: Researchers will study how assembly of muscle filaments in development of muscle is regulated in order to devise effective therapies for muscle atrophy and dysfunction. James Lupski, M.D., Ph.D. (RG) Molecular genetics of Charcot-Marie-Tooth (CMT) disease and related neuropathies $ 100,000.00 1/1/99 - 6/30/00 Extended Summary: This project seeks to identify the gene and molecular mechanisms responsible for common inherited neuropathies. Minako Oshima, Ph.D. (RG) Suppression of myasthenia gravis (MG) by antibodies against MHC peptides $ 75,000.00 1/1/00 - 12/31/00 Year 1 $ 75,000.00 1/1/01 - 12/31/01 Year 2 Summary: The project will investigate the efficacy of a new immunological treatment for MG, by targeting gene products related to this disease. Pragna Patel, Ph.D. (RG) Regulation and function of PMP-22, the gene underlying Charcot-Marie-Tooth disease type 1A (CMT1A) $ 61,508.00 1/1/00 - 12/31/00 Extended Summary: Transcriptional regulation of PMP22, the gene associated with CMT, will be studied and proteins interacting with PMP-22 will be identified. (RG) Molecular biology of Friedreich's ataxia (FA) and the GAA repeat expansion $ 70,686.00 1/1/00 - 12/31/00 Year 2 Summary: Assays for designing drug-based therapies for FA will be developed and tested. Ericka Simpson, M.D. (FRS) The resistance of motoneurons to toxic insults in transgenic mice overexpressing parvalbumin $ 35,000.00 7/1/99 - 6/30/00 Year 1 $ 35,000.00 7/1/00 - 6/30/01 Year 2 $ 35,000.00 7/1/01 - 6/30/02 Year 3 Summary: The concentration of parvalbumin or calbindin-D28k in motor neurons appears to influence calcium homeostasis and motor neuron toxicity and death in ALS. Transgenic mice over-expressing parvalbumin will be tested for resistance to motor neuron toxicity. This work should help develop new approaches to therapy aimed at delaying disease onset and progression as well as preventing neuronal death. Lubov Timchenko, Ph.D. (RG) The role of CUG binding protein (CUG-BP) in myotonic dystrophy (MMD) $ 50,000.00 1/1/99 - 3/30/00 Extended Summary: This project will investigate the potential role of the RNA CUG repeat binding protein CUG-BP in MMD. Lubov Timchenko, Ph.D. (RG) Generation of CUG binding protein (CUG-BP) transgenic mice as the model for myotonic dystrophy (MMD) $ 55,000.00 1/1/00 - 12/31/00 Year 2 Summary: Since patients with MMD show increased expression of a protein called CUG-BP, researchers propose to generate a mouse model over-expressing CUG-BP protein. Barbara Williams, Ph.D. (DG) Interaction domains of the skeletal muscle calcium release channel $ 35,000.00 1/1/00 - 12/31/00 Year 1 $ 35,000.00 1/1/01 - 12/31/01 Year 2 $ 35,000.00 1/1/02 - 12/31/02 Year 3 Summary: This research will determine how malignant hyperthermia (MH) and central core disease (CCD) mutations in the ryanodine receptor affect domain and/or modulator interactions. Houston - University of Houston Stuart Dryer, Ph.D. (RG) Neurotrophic effects on motoneuron physiology $ 65,177.00 1/1/00 - 12/31/00 Year 1 $ 66,818.00 1/1/01 - 12/31/01 Year 2 $ 73,908.00 1/1/02 - 12/31/02 Year 3 Summary: Neurotrophic factors have been proposed as therapeutic agents for motoneuron diseases such as ALS. These molecules promote survival of motoneurons under a variety of conditions, but clinical trials of these factors have been disappointing. Normal electrical activity of neurons is regulated by proteins known as ionic channels. Researchers will examine the role of neurotrophic factors in regulating motoneuron ionic channels during development, and after damaging lesion which normally cause many of these cells to die. Houston - University of Texas M.D. Anderson Cancer Center William Klein, Ph.D. (RG) The role of the myogenic regulatory factor myogenin in skeletal muscle development $ 60,000.00 1/1/00 - 12/31/00 Year 3 Summary: The proposed research attempts to understand at a fundamental level the genetic and molecular events that lead to the formation of mature skeletal muscle fibers. Robert Schulz, Ph.D. (RG) Characterization of somatic muscle founder cells $ 60,000.00 1/1/00 - 12/31/00 Year 3 Summary: A model genetic system will be used to investigate the expression and function of an important regulatory gene in a specialized class of muscle cells. Richardson - University of Texas Gail Breen, Ph.D. (RG) Regulation of mitochondrial energy metabolism in muscle cells $ 39,923.00 7/1/99 - 6/30/00 Year 3 Summary: Most of a cell's energy is in the form of ATP synthesized by a cell's mitochondria. Researchers will study how this ATP synthesis is regulated in muscle cells. San Antonio - University of Texas Eileen M. Lafer, Ph.D. (RG) Basic mechanisms underlying neurotransmission $ 77,078.00 7/1/99 - 6/30/00 Year 1 $ 60,000.00 7/1/00 - 6/30/01 Year 2 $ 60,000.00 7/1/01 - 6/30/02 Year 3 Summary: This research focuses on trying to understand how defects in one of the key pathways that is used to communicate information between nerves and muscles could lead to myasthenic syndromes, such as Eaton-Lambert's syndrome. This work may also lead to the rationale design of therapeutic strategies for the treatment of neuromuscular disease. Return to MDA Research Grants |
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