Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment

The American Journal of Pathology - Tập 181 - Trang 961-968 - 2012
Michael W. Lawlor1,2, Matthew S. Alexander1, Marissa G. Viola1, Hui Meng2, Romain Joubert3, Vandana Gupta1, Norio Motohashi1, Richard A. Manfready1, Cynthia P. Hsu1, Ping Huang1, Anna Buj-Bello3, Louis M. Kunkel1, Alan H. Beggs1, Emanuela Gussoni1
1Division of Genetics and the Program in Genomics, The Manton Center for Orphan Disease Research, Children's Hospital Boston, Harvard Medical School, Boston, Massachusetts
2Division of Pediatric Pathology, the Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, Wisconsin
3Department of Research and Development, Genethon, INSERM, Evry, France

Tài liệu tham khảo

Heckmatt, 1985, Congenital centronuclear (myotubular) myopathy: a clinical, pathological and genetic study in eight children, Brain, 108, 941, 10.1093/brain/108.4.941 Jungbluth, 2008, Centronuclear (myotubular) myopathy, Orphanet J Rare Dis, 3, 26, 10.1186/1750-1172-3-26 Pierson, 2005, X-linked myotubular and centronuclear myopathies, J Neuropathol Exp Neurol, 64, 555, 10.1097/01.jnen.0000171653.17213.2e Tsujita, 2004, Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction, J Biol Chem, 279, 13817, 10.1074/jbc.M312294200 Buj-Bello, 2002, The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice, Proc Natl Acad Sci U S A, 99, 15060, 10.1073/pnas.212498399 Dowling, 2009, Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy, PLoS Genet, 5, e1000372, 10.1371/journal.pgen.1000372 Al-Qusairi, 2009, T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase, Proc Natl Acad Sci U S A, 106, 18763, 10.1073/pnas.0900705106 Hnia, 2011, Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle, J Clin Invest, 121, 70, 10.1172/JCI44021 Razidlo, 2011, Myotubularin regulates Akt-dependent survival signaling via phosphatidylinositol 3-phosphate, J Biol Chem, 286, 20005, 10.1074/jbc.M110.197749 Buj-Bello, 2008, AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis, Hum Mol Genet, 17, 2132, 10.1093/hmg/ddn112 Lawlor, 2011, Inhibition of activin receptor type IIb increases strength and lifespan in myotubularin-deficient mice, Am J Pathol, 178, 784, 10.1016/j.ajpath.2010.10.035 Buj-Bello, 2002, Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells, Hum Mol Genet, 11, 2297, 10.1093/hmg/11.19.2297 Gussoni, 1999, Dystrophin expression in the mdx mouse restored by stem cell transplantation, Nature, 401, 390, 10.1038/43919 Rando, 1994, Primary mouse myoblast purification, characterization, and transplantation for cell-mediated gene therapy, J Cell Biol, 125, 1275, 10.1083/jcb.125.6.1275 Qu-Petersen, 2002, Identification of a novel population of muscle stem cells in mice: potential for muscle regeneration, J Cell Biol, 157, 851, 10.1083/jcb.200108150 Collins, 2005, Stem cell function, self-renewal, and behavioral heterogeneity of cells from the adult muscle satellite cell niche, Cell, 122, 289, 10.1016/j.cell.2005.05.010 Shefer, 2005, Isolation and culture of skeletal muscle myofibers as a means to analyze satellite cells, Methods Mol Biol, 290, 281 Wattanasirichaigoon, 2002, Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathy, Neurology, 59, 613, 10.1212/WNL.59.4.613 Sacco, 2008, Self-renewal and expansion of single transplanted muscle stem cells, Nature, 456, 502, 10.1038/nature07384 Sherwood, 2004, Isolation of adult mouse myogenic progenitors: functional heterogeneity of cells within and engrafting skeletal muscle, Cell, 119, 543, 10.1016/j.cell.2004.10.021 Schulz, 2011, Identification of inducible brown adipocyte progenitors residing in skeletal muscle and white fat, Proc Natl Acad Sci U S A, 108, 143, 10.1073/pnas.1010929108 Tamaki, 2002, Identification of myogenic-endothelial progenitor cells in the interstitial spaces of skeletal muscle, J Cell Biol, 157, 571, 10.1083/jcb.200112106 Long, 2011, Sca-1 is negatively regulated by TGF-beta1 in myogenic cells, FASEB J, 25, 1156, 10.1096/fj.10-170308 Tanaka, 2009, Syndecan-4-expressing muscle progenitor cells in the SP engraft as satellite cells during muscle regeneration, Cell Stem Cell, 4, 217, 10.1016/j.stem.2009.01.016 Joe, 2010, Muscle injury activates resident fibro/adipogenic progenitors that facilitate myogenesis, Nature Cell Biol, 12, 153, 10.1038/ncb2015 Uezumi, 2010, Mesenchymal progenitors distinct from satellite cells contribute to ectopic fat cell formation in skeletal muscle, Nature Cell Biol, 12, 143, 10.1038/ncb2014 Fukada, 2007, Molecular signature of quiescent satellite cells in adult skeletal muscle, Stem Cells, 25, 2448, 10.1634/stemcells.2007-0019 Danko, 1992, The frequency of revertants in mdx mouse genetic models for Duchenne muscular dystrophy, Pediatr Res, 32, 128, 10.1203/00006450-199207000-00025 Pierson, 2012, Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype, Hum Mol Genet, 21, 811, 10.1093/hmg/ddr512 Beggs, 2010, MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers, Proc Natl Acad Sci U S A, 107, 14697, 10.1073/pnas.1003677107 Van der Ven, 1995, Abnormal expression of intermediate filament proteins in X-linked myotubular myopathy is not reproduced in vitro, Neuromuscul Disord, 5, 267, 10.1016/0960-8966(94)00067-J Dorchies, 2001, Normal innervation and differentiation of X-linked myotubular myopathy muscle cells in a nerve-muscle coculture system, Neuromuscul Disord, 11, 736, 10.1016/S0960-8966(01)00221-8 Blau, 1983, Defective myoblasts identified in Duchenne muscular dystrophy, Proc Natl Acad Sci U S A, 80, 4856, 10.1073/pnas.80.15.4856 Webster, 1990, Accelerated age-related decline in replicative life-span of Duchenne muscular dystrophy myoblasts: implications for cell and gene therapy, Somat Cell Mol Genet, 16, 557, 10.1007/BF01233096 Castets, 2011, Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency, Hum Mol Genet, 20, 694, 10.1093/hmg/ddq515 Jejurikar, 2006, Aging increases the susceptibility of skeletal muscle derived satellite cells to apoptosis, Exp Gerontol, 41, 828, 10.1016/j.exger.2006.06.053 Jejurikar, 2002, Skeletal muscle denervation increases satellite cell susceptibility to apoptosis, Plast Reconstr Surg, 110, 160, 10.1097/00006534-200207000-00027 Lavrik, 2005, Death receptor signaling, J Cell Sci, 118, 265, 10.1242/jcs.01610 Green, 2005, Apoptotic pathways: ten minutes to dead, Cell, 121, 671, 10.1016/j.cell.2005.05.019 Rasheva, 2009, Cellular responses to endoplasmic reticulum stress and apoptosis, Apoptosis, 14, 996, 10.1007/s10495-009-0341-y