Desmin related disease: A matter of cell survival failure

Current Opinion in Cell Biology

Volumn 32, Issue , 2015, Pages 113-120

  Capetanaki, Yassemi ^a   Papathanasiou, Stamatis ^a   Diokmetzidou, Antigoni ^a   Vatsellas, Giannis ^a   Tsikitis, Mary ^a  

^a BIOMEDICAL RESEARCH FOUNDATION   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

DESMIN;

ADENOSINE DIPHOSPHATE RIBOSYLATION; CARDIOMYOPATHY; CELL DEATH; CELL FUNCTION; CELL INTERACTION; CELL STRUCTURE; CELL SURVIVAL; CONGESTIVE CARDIOMYOPATHY; COSTAMERE; DESMIN RELATED DISEASE; DISEASE COURSE; FIBROSIS; GENE MUTATION; GLYCATION; HEART FAILURE; HEART MUSCLE CELL; HEART RIGHT VENTRICLE DYSPLASIA; HUMAN; INFLAMMATION; INTERMEDIATE FILAMENT; MITOCHONDRIAL DYNAMICS; MUSCLE ATROPHY; MUSCULOSKELETAL DISEASE; NITRATION; OXIDATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN FUNCTION; PROTEIN MODIFICATION; PROTEIN PROCESSING; REVIEW; UBIQUITINATION; ANIMAL; CELL MEMBRANE; CHEMISTRY; CYTOLOGY; CYTOPLASM; CYTOSKELETON; GENETICS; METABOLISM; MITOCHONDRION; MUSCLE DISEASE; MUTATION; PATHOLOGY; SKELETAL MUSCLE;

ANIMALS; CELL DEATH; CELL MEMBRANE; CYTOPLASM; CYTOSKELETON; DESMIN; HUMANS; INTERMEDIATE FILAMENTS; MITOCHONDRIA; MUSCLE, STRIATED; MUSCULAR DISEASES; MUTATION; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 84922465114     PISSN: 09550674     EISSN: 18790410     Source Type: Journal    
DOI: 10.1016/j.ceb.2015.01.004     Document Type: Review

References (60)

1. Ho C.Y., et al. Lamin A/C and emerin regulate MKL1-SRF activity by modulating actin dynamics. Nature 2013, 497:507-511.
2. Swift J., et al. Nuclear lamin-A scales with tissue stiffness and enhances matrix-directed differentiation. Science 2013, 341:1240104.
3. Capetanaki Y., et al. Muscle intermediate filaments and their links to membranes and membranous organelles. Exp Cell Res 2007, 313:2063-2076.
4. Capetanaki Y. Desmin cytoskeleton: a potential regulator of muscle mitochondrial behavior and function. Trends Cardiovasc Med 2002, 12:339-348.
5. Selcen D. Myofibrillar myopathies. Neuromuscul Disord 2011, 21:161-171.
6. Goebel H.H., et al. Immunohistologic and electron microscopic abnormalities of desmin and dystrophin in familial cardiomyopathy and myopathy. Rev Neurol (Paris) 1994, 150:452-459.
7. Goldfarb L.G., Dalakas M.C. Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest 2009, 119:1806-1813.
8. van Spaendonck-Zwarts K.Y., et al. Desmin-related myopathy. Clin Genet 2011, 80:354-366.
9. Clemen C.S., et al. Desminopathies: pathology and mechanisms. Acta Neuropathol 2013, 125:47-75.
10. Anna Kostera-Pruszczyk P.P., Kamińska A., Lee H.-S., Goldfarb L.G. Diversity of cardiomyopathy phenotypes caused by mutations in desmin. Int J Cardiol 2007, 131:146-147.
11. Panagopoulou P., et al. Desmin mediates TNF-alpha-induced aggregate formation and intercalated disc reorganization in heart failure. J Cell Biol 2008, 181:761-775.
12. Baer H., et al. Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages. Proc Natl Acad Sci U S A 2005, 102:15099-15104.
13. Winter D.L., et al. Post-translational modifications of desmin and their implication in biological processes and pathologies. Histochem Cell Biol 2014, 141:1-16.
14. Caron A., Chapon F. Desmin phosphorylation abnormalities in cytoplasmic body and desmin-related myopathies. Muscle Nerve 1999, 22:1122-1125.
15. Janue A., et al. Desmin is oxidized and nitrated in affected muscles in myotilinopathies and desminopathies. J Neuropathol Exp Neurol 2007, 66:711-723.
16. Diguet N., et al. Muscle creatine kinase deficiency triggers both actin depolymerization and desmin disorganization by advanced glycation end products in dilated cardiomyopathy. J Biol Chem 2011, 286:35007-35019.
17. Agnetti G., et al. Desmin modifications associate with amyloid-like oligomers deposition in heart failure. Cardiovasc Res 2014, 102:24-34.
18. Cohen S., et al. Ubiquitylation by Trim32 causes coupled loss of desmin, Z-bands, and thin filaments in muscle atrophy. J Cell Biol 2012, 198:575-589.
19. Mavroidis M., et al. A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization. FASEB J 2008, 22:3318-3327.
20. Heling A., et al. Increased expression of cytoskeletal, linkage, and extracellular proteins in failing human myocardium. Circ Res 2000, 86:846-853.
21. Weisleder N., et al. Cardiomyocyte-specific desmin rescue of desmin null cardiomyopathy excludes vascular involvement. J Mol Cell Cardiol 2004, 36:121-128.
22. Liu J., et al. Impairment of the ubiquitin-proteasome system in desminopathy mouse hearts. FASEB J 2006, 20:362-364.
23. Kudryashova E., et al. Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component. Hum Mol Genet 2009, 18:1353-1367.
24. Ye X., et al. Coxsackievirus-induced miR-21 disrupts cardiomyocyte interactions via the downregulation of intercalated disc components. PLoS Pathog 2014, 10:e1004070.
25. Milner D.J., et al. Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J Cell Biol 1996, 134:1255-1270.
26. Li Z., et al. Cardiovascular lesions and skeletal myopathy in mice lacking desmin. Dev Biol 1996, 175:362-366.
27. Milner D.J., et al. The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function. J Mol Cell Cardiol 1999, 31:2063-2076.
28. Maerkens A., et al. Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy. J Proteomics 2013, 90:14-27.
29. Hnia K., et al. Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest 2011, 121:70-85.
30. Cetin N., et al. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. J Med Genet 2013, 50:437-443.
31. Conover G.M., Gregorio C.C. The desmin coil 1B mutation K190A impairs nebulin Z-disc assembly and destabilizes actin thin filaments. J Cell Sci 2011, 124:3464-3476.
32. Milner D.J., et al. Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function. J Cell Biol 2000, 150:1283-1298.
33. Weisleder N., Taffet G.E., Capetanaki Y. Bcl-2 overexpression corrects mitochondrial defects and ameliorates inherited desmin null cardiomyopathy. Proc Natl Acad Sci U S A 2004, 101:769-774.
34. Maloyan A., et al. Manipulation of death pathways in desmin-related cardiomyopathy. Circ Res 2010, 106:1524-1532.
35. Fountoulakis M., et al. Alterations in the heart mitochondrial proteome in a desmin null heart failure model. J Mol Cell Cardiol 2005, 38:461-474.
36. Winter L., Abrahamsberg C., Wiche G. Plectin isoform 1b mediates mitochondrion-intermediate filament network linkage and controls organelle shape. J Cell Biol 2008, 181:903-911.
37. Harner M., et al. The mitochondrial contact site complex, a determinant of mitochondrial architecture. EMBO J 2011, 30:4356-4370.
38. Maloyan A., et al. Mitochondrial dysfunction and apoptosis underlie the pathogenic process in alpha-B-crystallin desmin-related cardiomyopathy. Circulation 2005, 112:3451-3461.
39. Mann D.L. Stress-activated cytokines and the heart: from adaptation to maladaptation. Annu Rev Physiol 2003, 65:81-101.
40. O'Neill A., et al. Sarcolemmal organization in skeletal muscle lacking desmin: evidence for cytokeratins associated with the membrane skeleton at costameres. Mol Biol Cell 2002, 13:2347-2359.
41. Buckingham M.E., et al. Myogenesis in the mouse. Ciba Found Symp 1992, 165:111-124. (discussion 124-31).
42. Allen R.E., et al. Desmin is present in proliferating rat muscle satellite cells but not in bovine muscle satellite cells. J Cell Physiol 1991, 149:525-535.
43. Pfister O., Jain M., Liao R. Cell therapy in heart failure. Heart Fail Clin 2005, 1:303-312.
44. Li H., et al. Inhibition of desmin expression blocks myoblast fusion and interferes with the myogenic regulators MyoD and myogenin. J Cell Biol 1994, 124:827-841.
45. Weitzer G., et al. Cytoskeletal control of myogenesis: a desmin null mutation blocks the myogenic pathway during embryonic stem cell differentiation. Dev Biol 1995, 172:422-439.
46. -/- myoblasts but negatively affects cardiomyogenesis and smooth muscle development. FEBS Lett 2002, 523:229-233.
47. Hollrigl A., et al. Differentiation of cardiomyocytes requires functional serine residues within the amino-terminal domain of desmin. Differentiation 2007, 75:616-626.
48. Hofner M., et al. Desmin stimulates differentiation of cardiomyocytes and up-regulation of brachyury and nkx2.5. Differentiation 2007, 75:605-615.
49. Li H., Capetanaki Y. An E box in the desmin promoter cooperates with the E box and MEF-2 sites of a distal enhancer to direct muscle-specific transcription. EMBO J 1994, 13:3580-3589.
50. Kuisk I.R., et al. A single MEF2 site governs desmin transcription in both heart and skeletal muscle during mouse embryogenesis. Dev Biol 1996, 174:1-13.
51. Capetanaki Y., Milner D.J., Weitzer G. Desmin in muscle formation and maintenance: knockouts and consequences. Cell Struct Funct 1997, 22:103-116.
52. Lockard V.G., Bloom S. Trans-cellular desmin-lamin B intermediate filament network in cardiac myocytes. J Mol Cell Cardiol 1993, 25:303-309.
53. Shah S.B., et al. Structural and functional roles of desmin in mouse skeletal muscle during passive deformation. Biophys J 2004, 86:2993-3008.
54. Ralston E., et al. Blood vessels and desmin control the positioning of nuclei in skeletal muscle fibers. J Cell Physiol 2006, 209:874-882.
55. Frock R.L., et al. Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation. Genes Dev 2006, 20:486-500.
56. Kouloumenta A., Mavroidis M., Capetanaki Y. Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin. J Biol Chem 2007, 282:35211-35221.
57. Kielbasa O.M., et al. Myospryn is a calcineurin-interacting protein that negatively modulates slow-fiber-type transformation and skeletal muscle regeneration. FASEB J 2011, 25:2276-2286.
58. Witt S.H., et al. Dimerization of the cardiac ankyrin protein CARP: implications for MARP titin-based signaling. J Muscle Res Cell Motil 2005, 26:401-408.
59. Kasahara A., et al. Mitochondrial fusion directs cardiomyocyte differentiation via calcineurin and Notch signaling. Science 2013, 342:734-737.
60. Psarras S., et al. Regulation of adverse remodelling by osteopontin in a genetic heart failure model. Eur Heart J 2012, 33:1954-1963.