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NEUROLOGY 2005;65:732-737
© 2005 American Academy of Neurology

Gene expression analyses in X-linked myotubular myopathy

S. Noguchi, PhD, M. Fujita, MSc, K. Murayama, BSc, R. Kurokawa, MSc and I. Nishino, MD, PhD

From the Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan; and Core Research for Evolutional Science and Technology (CREST), Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan.

Address correspondence and reprint requests to Dr. Satoru Noguchi, Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry,4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan; e-mail: noguchi{at}ncnp.go.jp

Background: X-linked myotubular myopathy (XLMTM) is a severe congenital disorder characterized by marked muscle weakness and hypotonia. Myotubularin, the protein product of the causative gene, MTM1, is thought to be a phosphatase for phosphatidylinositol-3-phosphate and may be involved in membrane trafficking. Analysis of MTM1 knocked-out mice indicates that the characteristic small fibers in XLMTM muscles are due to atrophy rather than hypoplasia.

Objective: To characterize gene expression profiling of skeletal muscles with XLMTM.

Method: The authors analyzed the expression of more than 4,200 genes in skeletal muscles from eight patients with XLMTM using their custom cDNA microarray.

Results: In XLMTM, gene expression analysis revealed pathognomonic upregulation of transcripts for cytoskeletal and extracellular matrix proteins within or around atrophic myofibers.

Conclusion: Remodeling of cytoskeletal and extracellular architecture appears to contribute to atrophy and intracellular organelle disorganization in XLMTM myofibers.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the September 13 issue to find the title link for this article.

Supported by the Research Grant (16B-2) for Nervous and Mental Disorders from the Ministry of Health, Labor and Welfare of Japan, and Research on Health Sciences focusing on Drug Innovation from The Japan Health Science Foundation.

Disclosure: The authors report no conflicts of interest.

Received February 1, 2005. Accepted in final form May 27, 2005.