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Department
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Genetics
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Hospital Title
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Associate in Medicine
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Academic Title
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Associate Professor of Pediatrics
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Phone
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617-919-2169
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Fax
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617-730-0253
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Email
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Alan Beggs
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Location
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300 Longwood Avenue
Enders-5
Boston MA 02115
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Alan Beggs' research is aimed at understanding the structures and function of the proteins that make up skeletal muscle fibers.
Beggs and colleagues are taking two approaches to the problem. The first involves identifying and characterizing new skeletal muscle genes and proteins. The second entails identifying genetic mutations that cause human neuromuscular disease. These simultaneous approaches should enable them to correlate their basic muscle biology findings with their studies on muscle tissue in patients with neuromuscular diseases.
The diseases under study include nemaline myopathy, myotubular myopathy, congenital fiber type disproportion (CFTC), multiminicore disease, and congenital myopathies with non-specific muscle findings.
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- Agrawal PB, Strickland CD, Midgett CM, Morales A, Newburger D, Poulos MA, Tomczak KK, Ryan M, Iannaccone ST, Crawford TO, Laing NG, Beggs AH. Heterogeneity of nemaline myopathy cases with skeletal muscle actin gene (ACTA1) mutations. Annal Neurol 2004, 56:86-96.
- Bitoun M, Maugenre S, Jeannet PY, Lacene E, Ferrer X, Laforet P, Martin JJ, Laporte J, Lochmuller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nature Genetics 2005; 37:1207-9.
- Sanoudou D, Corbett MA, Han M, Ghoddusi M, Nguyen MT, Vlahovich N, Hardeman, Beggs AH. Skeletal muscle repair in a mouse model of nemaline myopathy. Human Mol Genet 2006; 15:2603-2612.
- Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari V-L, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet 2007; 80:162-167.
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Beggs NIH BioSketch
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