Research
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
 Muscular Dystrophy
Muscular 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 (Ohio State University), 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 gentamicin treatment trial in Duchenne and sarcoglycan-deficient muscular dystrophy patients with mutations that lead to stop codons, (3) preparations for gene therapy trials in Duchenne and LGMD, and (4) a new project to characterize clinical features of patients with large 4q35 deletions. Please refer to: (Muscular Dystrophy Testing at The University of Iowa)
Related bibliography:
Durbeej M, Cohn RD, Hrstka RF, Moore SA, Allamand V, Davidson BL, Williamson RA, and Campbell KP. Disruption of the b-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. Molecular Cell 5:141-151, 2000.
Felice KJ, North WA, Mathews K, and Moore SA. FSH dystrophy 4q35 deletion in patients presenting with facial-sparing scapular myopathy. Neurology 54:1927-1931, 2000.
Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA, Stolle CA, Fardeau M, Tome FMS, and Campbell KP. Molecular and genetic characterization of sarcospan: insights ino sarcoglycan—sarcospan interactions. Hum Mol Genetics 9:2019-2027, 2000.
Piccolo F, Moore SA, Ford GC, Campbell KP. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol 48:902-912, 2000.
Barresi R, Moore SA, Stolle CA, Mendell J, and Campbell KP. Expression of g-sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex. J Biol Chem 275:38554-38560, 2000.
Cohn RC, Durbeej M, Moore SA, Coral-Vazquez R, Prouty S and Campbell KP. Prevention of cardiomyopathy in mouse models lacking the smooth muscle sarcoglycan-sarcospan complex. J Clin Invest 107:R1-R7, 2001.
Felice KJ and Moore SA. Unusual clinical presentations in patients harboring the facioscapulohumeral dystrophy 4q35 deletion. Muscle Nerve 24:352-356, 2001.
Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, and Campbell KP. Post-translational disruption of dystroglycan—ligand interactions in congenital muscular dystrophies. Nature 418:417-422, 2002.
Moore SA, Saito F, Chen J, Michele DE, Henry MD, Messing A, Cohn RD, Ross-Barta SE, Westra S, Williamson RA, Hoshi T, and Campbell KP. Deletion of brain dystroglycan recapitulates aspects of congenital muscular dystrophy. Nature 418:422-425, 2002.
Cohn RD, Henry MD, Barresi R, Michele DE, Barresi R, Saito F, Moore SA, Flanagan JD, Skwarchuk MW, Robbins ME, Williamson R, Campbell KP. Disruption of Dag1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell 110:639-648, 2002.
Mathews KD and Moore SA. Limb Girdle Muscular Dystrophy. Current Neurology and Neuroscience Reports 3:78-85, 2003.
Saito F, Moore SA, Barresi R, Henry MD, Messing A, Ross-Barta SE, Cohn RD, Williamson RA, Sluka KA, Sherman DL, Brophy PJ, Schmelzer JD, Low PA, Wrabetz L, Feltri ML, Campbell KP. Unique role of dystroglycan in peripheral nerve myelination, nodal structure, and sodium channel clustering. Neuron 38:747-758, 2003.
Mathews KD and Moore SA. Multiminicore myopathy, central core disease, malignant hyperthermia susceptibility, and RYR1 mutations: one disease with many faces? Arch Neurol. 61(1):27-9, 2004.
Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Cumansi JP, Cohn RD, Nishino I, and Campbell KP. LARGE can functionally bypass a-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nature Medicine 10:696-703, 2004.
Occhi S, Zambroni D, Del Carro U, Amadio S, Sirkowski EE, Scherer SS, Campbell K, Moore SA, Chen Z-L, Strickland S, Di Muzio A, Uncini A, Wrabetz L, Feltri ML. Both laminin and Schwann cell dystroglycan are necessary for proper clustering of sodium channels at nodes of Ranvier. J Neurosci. 25:9418-9427, 2005.
Moore SA, Shilling CJ, Westra S, Wall, Wicklund MP, Stolle C, Brown CA, Michele DE, Piccolo F, Winder TL, Stence A, Barresi R, King N, King W, Florence J, Campbell KP, Fenichel GM, Stedman HH, Kissel JT, Griggs RC, Pandya S, Mathews KD, Pestronk A, Serrano C, Darvish D, and Mendell JR. Limb-girdle muscular dystrophy in the United States. J Neuropathol Exp Neurol. 65(10):995-1003, 2006.
RESEARCH STAFF
Huy Nguyen, BS
Huy-Nguyen@uiowa.edu
Graduate Student
4270A CBRB
|
