Christopher R. Pierson, M.D., Ph.D.
Nationwide Children's Research Institute
700 Children's Drive
Research II Bldg, WA5016
Columbus, OH 43205
Phone: (614) 355-2668
Fax: (614) 722-5895
Education & Training:
Michigan State University, 1993 B.S. in Microbiology
University School of Medicine, 1997 M.D.
Wayne State University School
of Medicine, 2002 Ph.D. in Pathology
Wayne State University School of
Medicine 2002 Anatomic Pathology Residency
Harvard Medical School and
Children’s Hospital, 2007 Postdoctoral
Our laboratory studies X-linked myotubular myopathy (MTM) a severe
congenital myopathy that is due to MTM1 mutations. MTM1 encodes the ubiquitously
expressed lipid phosphatase myotubularin that is recognized as the canonical
member of the myotubularin-related family of lipid phosphatases. For unknown
reasons, MTM patients have severe, diffuse muscle weakness and hypotonia
that can lead to death in childhood. To further understand MTM, we are
working to identify and characterize skeletal muscle proteins that interact
with myotubularin. We are also using gene expression analysis in an effort
to elucidate critical pathogenic pathways that contribute to the mechanism
of MTM. Currently treatment is limited to supportive care so in an effort
to address this need we are devising novel therapies that will be safe
and effective. Our long-term goal is to understand the biologic role of
myotubularin and MTM pathogenesis and to use this new knowledge to devise
and develop novel therapeutic strategies.
- A Buj-Bello, F Fourgerousse, Y Schwab, N Messaddeq, D Spehner, CR
Pierson, M Durand, C Kretz, O Danos, A-M Douar, AH Beggs, P Schultz,
M Montus, P Denèfle, J-L Mandel. AAV-mediated intramuscular
delivery of myotubularin corrects the myotubular myopathy phenotype
in mice and suggests a function in plasma membrane homeostasis. Hum
Mol Genet (2008) 17: 2132-2143.
- CR Pierson, PB Agrawal, J Blasko, AH Beggs. Myofiber size correlates
with MTM1 mutation type and outcome in X-linked Myotubular
Myopathy. Neuromuscular Disorders (2007) 17: 562-568.
- RH Brown Jr., PE Grant, CR Pierson. Case Records of Massachusetts
General Hospital. Case 35-2006: A Newborn Boy with Hypotonia. N
Engl J Med (2006) 355: 2132-2142.
- CR Pierson, K Tomczak, P Agrawal, B Moghadaszadeh,
AH Beggs. The Myotubular and Centronuclear Myopathies. J Neuropathol
Exp Neurol (2005) 64: 555-564.