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| Muscular Dystrophy, Cerebral Blood Vessels Steven A. Moore, M.D., Ph.D. Professor of Pathology Laboratory: 4278 Carver Biomedical Research Building Office: 4270A Carver Biomedical Research Building Voice: 319-335-8215 Fax: 319-335-8905 Email: steven-moore@uiowa.edu |
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Muscular DystrophyMuscular dystrophies are a diverse group of inherited disorders characterized by progressive muscle weakness and wasting. Dr. Moore is involved in the evaluation of patient biopsies and in research partially funded through a center grant from NIH. This Paul D. Wellstone Muscular Dystrophy Cooperative Research Center is exploring therapeutic strategies for the treatment of various muscular dystrophies by enabling translational research on muscular dystrophies and providing advanced diagnostic services. The MDCRC is composed of three research projects, three cores and investigators with a proven track record of excellence and collaboration. The Center researchers’ studies and facilities will explore basic biological mechanisms that relate to possible treatments for muscular dystrophies, facilitate translational research on muscular dystrophies and provide advanced diagnostic services to patients and clinical trial participants. The Director and Co-director, Kevin Campbell and Steven Moore, are investigators with established records in basic, translational, and clinical research on muscular dystrophy.
Additional basic science collaboration with Dr. Kevin Campbell, Department of Physiology and Biophysics (The Laboratory of Dr. Kevin P. Campbell) involves the pathologic characterization of genetic mouse models of muscular dystrophy. Our most recent basic science collaborations use Cre-lox methodology to selectively knock out brain or peripheral nerve dystroglycan. These mice model congenital muscular dystrophy.
Clinical diagnostic work in the general area of muscular dystophies has expanded into basic and clinical research projects in collaboration with Drs. Jerry Mendell (Nationwide Children's Hospital), Kevin Campbell, and Kathy Mathews (Department of Pediatrics, The University of Iowa). Current clinical studies involve: (1) a multicenter study of limb-girdle muscular dystrophy (LGMD) aimed at characterizing genotype/phenotype relationships in this diverse array of muscular dystrophies, (2) a natural history student of patients with dystroglycanopathy, (3) a diagnostic test study of dysferlinopathy patients, and (4) a project to characterize clinical features of patients with large 4q35 deletions. Please refer to: (Muscular Dystrophy Testing at The University of Iowa)
Related bibliography:
Ferraris S, Clark S, Garelli E, Davidzon G, Moore SA, Kardon RH, Bienstock RJ, Longley MJ, Mancuso M, Rios PG, Hirano M, Copeland WC, DiMauro S. Progressive external ophthalmoplegia and visual hearing loss in a patient with a mutations in POLG2 and OPA1. Arch Neurol 65:125-131, 2008.
Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore SA, Bähring S, Wenzel K, Vinkemeier U, Rocken C. Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol 63:323-328, 2008.
Kobuke K, Piccolo F, Garringer KW, Moore SA, Sweezer E, Yang B, Campbell KP. A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice. Hum Mol Genet 17:1201-1213, 2008.
Pace RA, Peat RA, Baker NL, Zamurs L, Mörgelin M, Irving M, Adams NE, Bateman JF, Mowat D, Smith NCJ, Lamont PJ, Moore SA, Mathews KD, North KN, Lamandé SR. Collagen VI glycine mutations: Perturbed assembly and a spectrum of clinical severity. Ann Neurol 64:294-303, 2008.
Kobayashi YM, Rader EP, Crawford RW, Iyengar NK, Thedens DR, Faulkner JA, Parikh SV, Weiss RM, Chamberlain JS, Moore SA, and Campbell KP. Sarcolemma-localized nNOS is required to maintain activity after mild exercise. Nature 456:511-515, 2008.
Satz JS, Barresi R, Durbeej M, Willer T, Turner A, Moore SA, and Campbell KP. Brain and eye malformations resembling Walker-Warburg syndrome are recapitulated in mice by dystroglycan deletion in the epiblast. J Neurosci 28:10567-10575, 2008.
Chang W, Winder TL, LeDuc C, Simpson L, Dungan J, Plaga P, Moore SA, Chung W. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn 29: 560-569, 2009.
Wakefield SE, Dimberg EL, Moore SA, Tseng BS. Dystrophinopathy presenting with arrhythmia in an asymptomatic 34-year-old man: a case report. J Med Case Reports 3:8625, 2009.
Puckett RL, Moore SA, Winder TL, Willer T, Romansky SG, Covault KK, Campbell KP, Abdenur JE. Further evidence of fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. Neuromuscul Disord 19:352-356, 2009.
Margeta M, Connolly A, Winder T, Pestronk A and Moore SA. Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 21. Muscle Nerve 40:883-889, 2009.
Han R, Kanagawa M, Yoshida-Moriguchi T, Rader EP, Ng RA, Michele DE, Muirhead DE, Kunz S, Moore SA, Iannaccone ST, Miyake K, McNeil PL, Mayer U, Oldstone MB, Faulkner JA, and Campbell KP. Basal lamina strengthens cell membrane Integrity via the laminin G domain binding motif of α-dystroglycan. Proc Natl Acad Sci USA 106:12573-12579, 2009.
Rodríguez-Lebrón E, Gouvion CM, Moore SA, Davidson BL and Paulson HL. Allele-specific RNAi mitigates phenotypic progression in a transgenic model of Alzheimer's disease. Mol Ther 17:1563-1573, 2009.
Satz JS, Philp AR, Kusano H, Lee J, Riker MJ, Turk R, Weiss RM, Anderson MG, Mullins RF, Stone EM, Moore SA, Campbell KP. Visual impairment in the absence of dystroglycan. J Neurosci 29:13136-13146, 2009.
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