S Noguchi1, M Fujita, K Murayama, R Kurokawa, I Nishino. 1. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry,4-1-1 Ogawahigashi, Kodaira, Tokyo, 187-8502, Japan. noguchi@ncnp.go.jp
Abstract
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.
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.
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