Summary
Desmin is an intermediate filament protein that in striated muscle is normally located at Z-bands, beneath the sarcolemma, and prominently at neuromuscular junctions. It is abundant during myogenesis and in regenerating fibers, but decreases in amount with maturation; in regenerating and denervated muscle fibers it is co-expressed with vimentin. Aggregates of desmin occur as nonspecific cytoplasmic bodies or cytoplasmic spheroid complexes, similar to the aggregates of keratin filaments in Mallory bodies or the neurofilament aggregates in Lewy bodies. In all three instances, alpha-B crystallin may be associated with desmin. There are now increasing numbers of neuromuscular disorders in which abnormal amounts of desmin, some abnormally phosphorylated, feature prominently in muscle fibres. Several of these diseases, including spheroid body myopathy, granulo-filamentous body myopathy and the dystrophinopathies, are familial. Ultrastructural and immunohistochemical studies of desmin have considerably broadened our understanding of the pathology of the cytoskeleton in muscle fibers and in certain hereditary neuromuscular diseases.
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References
Altmannsberger M, Osborn M, Treuner J, Hölscher A, Weber K, Schauer A (1982) Diagnosis of human childhood rhabdomyosarcoma by antibodies to desmin, the structural protein of muscle-specific intermediate filaments. Virchows Arch [B] 39:203–215
Arahata K, Ishiura S, Ishiguro T, Tsukahara T, Suhara Y, Eguchi C, Ishihara T, Nonaka I, Ozawa E, Sugita H (1988) Immunostaining of skeletal and cardiac muscle surface membrane with antibody against Duchenne muscular dystrophy peptide. Nature 333:861–863
Askanas V, Bornemann A, Engel WK (1990) Immunocytochemical localization of desmin at human neuromuscular junctions. Neurology 40:949–953
Askanas V, Serdaroglu P, Engel WK, Alvarez RB (1991) Immunolocalization of ubiquitin in muscle biopsies of patients with inclusion body myositis and oculopharyngeal muscular dystrophy. Neurosci Lett 130:73–76
Askanas V, Alvarez RB, McFerrin J, Serdaroglu P, Lew MF, Engel WK (1992) Facio-scapulo-humeral (FSH) syndrome with abnormal desmin accumulation: a new entity? Neurology 42:229 [Suppl 3]
Babai F, Musevi-Aghdam J, Schurch W, Royal A (1990) Coexpression of alpha-sarcomeric actin, alpha-smooth muscle actin and desmin during myogenesis in rat and mouse embryos. I. Skeletal Muscle. Differentiation 44:132–142
Bennett GS, Fellini SA, Toyama Y, Holtzer H (1979) Redistribution of intermediate filament subunits during skeletal myogenesis and maturation in vitro. J Cell Biol 82:577–584
Bertini E, Bosman C, Ricci E, Servidei S, Boldrini R, Sabatelli M, Salviati G (1991) Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study. Acta Neuropathol (Berl) 81:632–640
Bindoff L, Cullen MJ (1978) Experimental (−)emetine myopathy. Ultrastructural and morphometric observations. J Neurol Sci 39:1–15
Bornemann A, Schmalbruch H (1992) Desmin and vimentin in regenerating muscles. Muscle Nerve 15:14–20
Bornemann A, Schmalbruch H (1993) Anti-vimentin staining in muscle pathology. Neuropathol Appl Neurobiol (in press)
Bradley WG, Fewings JD, Harris JB, Johnson MA (1976) Emetine myopathy in the rat. Br J Pharmacol 57:29–41
Carter RL, McCarthy KP, Machin LG, Jameson CF, Philp ER, Pinkerton CR (1989) Expression of desmin and myoglobin in rhabdomyosarcomas and in developing skeletal muscle. Histopathology 15:585–595
Chapon F, Viader F, Fardeau M, Tomé F, Daluzeau N, Berthelin Ch, Thénint JPh, Lechevalier B (1989) Myopathie familiale avec inclusions de type “corps cytoplasmiques” (ou “sphéroides”) révélée par une insuffisance respiratoire. Rev Neurol (Paris) 145:460–465
Chou SM, Mizuno Y (1986) Induction of spheroid cytoplasmic bodies in a rat muscle by local tetanus. Muscle Nerve 9:455–464
Clark JR, D'Agostino AN, Wilson J, Brooks RR, Cole GC (1978) Autosomal dominant myofibrillar inclusion body myopathy: clinical, histologic, histochemical, and ultrastructural characteristics. Neurology 28:399
Cullen JM, Fulthorpe JJ, Harris JB (1992) The distribution of desmin and titin in normal and dystrophic human muscle. Acta Neuropathol (Berl) 83:158–169
Dalakas MC, Illa I, Pezeshkpozur GH, Laukaitis JP (1990a) Can we distinguish AZT-induced myopathy from that due to HIV? Neurology 40:414 [Suppl 1]
Dalakas MC, Illa I, Pezeshkpour GH, Laukaitis PJ, Cohen B, Griffin JL (1990b) Mitochondrial myopathy caused by longterm zidovudine therapy. N Engl J Med 322:1098–1105
Dalakas MC, Pezeshkpour GH (1988) Neuromuscular diseases associated with human immunodeficiency virus infection. Ann Neurol 23:S38-S48
de Jong ASH, van Kessel-van Vark M, Albus-Lutter ChE, van Raamsdonk W, Voúte PA (1985) Skeletal muscle actin as tumor marker in the diagnosis of rhabdomyosarcoma in childhood. Am J Surg Pathol 9:467–474
Duane DD, Engel AG (1970) Emetine myopathy. Neurology 20:733–739
Edström L, Thornell L-E, Eriksson A (1980) A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J Neurol Sci 47:171–190
Fardeau M, Godet-Guillain J, Tomé FMS, Collin H, Gaudeau S, Boffety CL, Vernant P (1978) Une nouvelle affection musculaire familiale, définie par l'accumulation intra-sarcoplasmique d'un matériel granulo-filamentaire dense en microscopie électronique. Rev Neurol (Paris) 134:411–425
Fidzianska A, Goebel HH, Osborn M, Lenard HG, Osse G, Langenbeck U (1983) Mallory body-like inclusions in a hereditary congenital neuromuscular disease. Muscle Nerve 6:195–200
Fürst DO, Osborn M, Weber K (1989) Myogenesis in the mouse embryo: differential onset of expression of myogenic proteins and the involvement of titin in myofibril assembly. J Cell Biol 109:517–527
Fukuhara N, Hoshi M, Moris S (1977) Core/targetoid fibres and multiple cytoplasmic bodies in organophosphate neuropathy. Acta Neuropathol (Berl) 40:137–144
Gallanti A, Prelle A, Moggio M, Ciscato P, Checcarelli N, Sciaccio M, Comini A, Scarlato C (1992) Desmin and vimentin as markers of regeneration in muscle diseases. Acta Neuropathol (Berl) 85:88–92
Gard DL, Lazarides E (1980) The synthesis and distribution of desmin and vimentin during myogenesis in vitro. Cell 19:263–275
Geisler N, Weber K (1980) Purification of smooth-muscle desmin and a protein-chemical comparison of desmins from chicken gizzard and hog stomach. Eur J Biochem 111:425–433
Goebel HH (1986) Neuropathological aspects of congenital myo-pathies. Progress in Neuropathology 6:231–262
Goebel HH, Muller J, Gillen HW, Merrit AD (1978) Autosomal dominant “spheroid body myopathy”. Muscle Nerve 1:14–26
Goebel HH, Schloon H, Lenard HG (1981) Congenital myopathy with cytoplasmic bodies. Neuropediatrics 12:166–180
Goebel HH, Halbig L, Voit T, Schober R, Klein H (1990) Familial inclusion body myopathy. 15th Oxford Symposium on Muscle Disease
Goebel HH, Lenard HG (1992) Congenital myopathies. In: Rowland LP, DiMauro S (eds) Handbook of clinical neurology, vol 18 (62): myopathies. Elsevier, Amsterdam, pp. 331–367
Goebel HH, Voit T, Warlo I (1992) Immunohistochemical and electron microscopic abnormalities in dystrophin-related muscular dystrophy. J Neuropathol Exp Neurol 51:355
Granger BL, Lazarides E (1978) The existence of an insoluble Z disc scaffold in chicken skeletal muscle. Cell 15:1253–1268
Granger BL, Lazarides E (1979) Desmin and vimentin coexist at the periphery of the myofibril Z disc. Cell 18 1053–1063
Hall-Craggs ECB, Max SR, Wines MM, Moreland TM, Hebel JR (1983) Central core degeneration after tenotomy in soleus muscles of hyperthyroid rats. Exp Neurol 81: 722–732
Halbig L, Goebel HH, Hopf HC, Moll R (1991) Spheroid-cytoplasmic complexes in a congenital myopathy. Rev Neurol (Paris) 147:300–307
Hartung HP, Heininger K, Toyka KV (1988) Neuromuskuläre Manifestationen der HIV-1- und HTLV-I-Infektionen. Dtsch Med Wochenschr 113:1975–1981
Helliwell TR (1988) Lectin binding and desmin staining during bupivacaine-induced necrosis and regeneration in rat skeletal muscle. J Pathol 155:317–326
Helliwell TR, Gunhan O, Edwards RHT (1989) Lectin binding and desmin expression during necrosis, regeneration, and neurogenic atrophy of human skeletal muscle. J Pathol 159:43–51
Hill CS, Duran S, Lin Z, Weber K, Holtzer H (1986) Titin and myosin, but not desmin are linked during myofibrillogenesis in postmitotic mononucleated myoblasts. J Cell Biol 103:2185–2196
Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, Kupsky W, Chamberlain J, Caskey CT, Shapiro F, Kunkel LM (1988) Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 318:1363–1368
Hopf NJ, Goebel HH (1993) Experimental emetine myopathy: enzyme histochemical, electron microscopic, and immunomor-phological studies. Acta Neuropathol (Berl) 85:414–418
Hübner G, Pongratz D (1981) Granularkörpermyopathie (sog. Reducing body myopathy). Virchows Arch (A) 392:97–104
Ishikawa H, Bischoff R, Holtzer H (1968) Mitosis and intermediate-sized filaments in developing skeletal muscle. J Cell Biol 38:538–555
Jerusalem F, Ludin H, Bischoff A, Hartmann G (1979) Cytoplasmic body neuromyopathy presenting as respiratory failure and weight loss. J Neurol Sci 41:1–9
Kaminska AM, Fidzianska A (1992) Immunofluorescent localization of vimentin and desmin intermediate filaments in regenerating rat skeletal muscle. Basic Applied Myol 2:27–31
Kaufmann SJ, Foster RF (1988) Replicating myoblasts express a muscle-specific phenotype. Dev Biol 85:9606–9610
Kelly DE (1969) Myofibrillogenesis and Z-band differentiation. Anat Rec 163:403–426
Kinoshita M, Satoyoshi E, Suzuki Y (1975) Atypical myopathy with myofibrillar aggregates. Arch Neurol 32:417–420
Kobayashi K, Mizuno Y, Suzuki H, Takase S (1986) Clinicopathological study on familial cases of cytoplasmic body myopathy (in Japanese). Rinsho Shinkeigaku (Tokyo) 26:142 [Abstr]
Lazarides E, Granger BL (1983) Transcytoplasmic integration in avian erythrocytes and striated muscle: the role of intermediate filaments. Mod Cell Biol 2:143–162
Lehtonen E, Asikainen U, Badley RA (1982) Rhabdomyoma. Acta Pathol Microbiol Immunol Scand (Sect A) 90:125–129
Li ZL, Lilienbaum A, Butter-Browne G, Paulin D (1989) Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development. Gene 78:243–254
Lilienbaum A, Li ZL, Butter-Browne G, Bolmont C, Grimaud JA, Paulin D (1988) Human desmin gene: utilization as a marker of human muscle differentiation. Cell Mol Biol 34:663–672
Lowe J, McDermott H, Pike I, Spendlove I, Landon M, Mayer RJ (1992) Alpha-B crystallin expression in non-lenticular tissues and selective presence in ubiquitinated inclusion bodies in human disease. J Pathol 166:61–68
MacDonald RD, Engel AG (1969) The cytoplasmic body: another structural anomaly of the Z disk. Acta Neuropathol (Berl) 14:99–107
Mateer JE, Farrell BJ, Chou SM, Gutmann L (1985) Reversible ipecac myopathy. Arch Neurol 42:188–190
Miettinen M, Lehto V-P, Badley RA, Virtanen I (1982) Alveolar rhabdomyosarcoma. Demonstration of the muscle type of intermediate filament protein, desmin, as a diagnostic aid. Am J Pathol 108:246–251
Misra AK, Menon NK, Mishra SK (1992) Abnormal distribution of desmin and vimentin in myofibres in adult onset myotubular myopathy. Muscle Nerve 15:1246–1252
Mizuno Y, Nakamura Y, Komiya K (1989) The spectrum of cytoplasmic body myopathy: report on a congenital severe case. Brain Dev 1:20–25
Nakashima N, Tamura Z, Okamoto S, Goto H (1970) Inclusion bodies in human neuromuscular disorder. Arch Neurol 22:270–278
Nicholson LVB, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB (1990) Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol (Berl) 80:239–250
Osborn M, Goebel HH (1983) The cytoplasmic body in a congenital myopathy can be stained with antibodies to desmin, the muscle-specific intermediate filament protein. Acta Neuropathol (Berl) 62:149–152
Patel H, Berry K, MacLeod P, Dunn HG (1983) Cytoplasmic body myopathy. Report on a family and review of the literature. J Neurol Sci 60:281–292
Paulus W, Slowik F, Jellinger K (1991) Primary intracranial sarcomas: histopathological features of 19 cases. Histopathology 18:395–402
Pearce MB, Bullock RT, Murphy ML (1971) Selective damage of myocardial mitochondria due to emetine hydrochloride. Arch Pathol Lab Med 19:8–18
Pellissier JF, Pouget J, Charpin C, Figarella D (1989) Myopathy associated with desmin type intermediate filaments. J Neurol Sci 89:49–61
Porte A, Stoeckel M-E, Sacrez A, Batzenschlager A (1980) Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells. Virchows Arch [A] 386:43–58
Prelle A, Moggio M, Comi GP, Gallanti A, Checcarelli N, Bresolin N, Ciscato P, Fortunato F, Scarlato G (1992) Congenital myopathy associated with abnormal accumulation of desmin and dystrophin. Neuromusc Disord 2:169–175
Quax W, Meera Khan P, Quax-Jeuken Y, Bloemendal H (1985) The human desmin and vimentin genes are located on different chromosomes. Gene 38:189–196
Rappaport L, Contard F, Samuel JL, Delcayre C, Marotte F, Tomé F, Fardeau M (1988) Storage of phosphorylated desmin in a familial myopathy. FEBS Lett 231:421–425
Richardson FL, Stromer MH, Huiatt TW, Robson RM (1981) Immunoelectron and immunofluorescence localization of desmin in mature avian muscles. Eur J Cell Biol 26:91–101
Sarnat HB (1990) Myotubular myopathy: arrest of morphogenesis of myofibres associated with persistence of fetal vimentin and desmin. Four cases compared with fetal and neonatal muscle. Can J Neurol Sci 17:109–123
Sarnat HB (1992) Vimentin and desmin in maturing skeletal muscle and developmental myopathies. Neurology 42:1616–1624
Schiffer D, Giordana MT, Pezzotta S, Pezzulo T, Vigliani MC (1992) Medullomyoblastoma: report of two cases. Childs Nerv Syst 8:268–272
Schmalbruch H (1976) The morphology of regeneration of skeletal muscles in the rat. Tissue Cell 8:673–692
Schmalbruch H (1992) The muscular dystrophies. In: Mastaglia FL (ed) Skeletal muscle pathology. Churchill Livingstone, Edinburgh, pp 283–318
Schröder JM, Sommer C, Schmidt B (1990) Desmin and actin associated with cytoplasmic bodies in skeletal muscle fibres: immunocytochemical and fine structural studies, with a note on unusual 18-to 20-nm filaments. Acta Neuropathol (Berl) 80:406–414
Schultheiss T, Lin Z, Ishikawa H, Zamir I, Stoeckert CJ, Holtzer H (1991) Desmin/Vimentin intermediate filaments are dispensable for many aspects of myogenesis. J Cell Biol 114:953–966
Stapleton SR, Harkness W, Wilkins PR, Uttley D (1992) Gliomyosarcoma: an immunohistochemical analysis. J Neurol Neurosurg Psychiatry 55:728–730
Stoeckel M-E, Osborn M, Porte A, Sacrez A, Batzenschlager A, Weber K (1981) An unusual familial cardiomyopathy characterized by aberrant accumulations of desmin-type intermediate filaments. Virchows Arch [A] 393:53–60
Taratuto AL, Molina HA, Diez B, Zúccaro G, Monges J (1985) Primary rhabdomyosarcoma of brain and cerebellum. Report of four cases in infants: an immunohistochemical study. Acta Neuropathol (Berl) 66:98–104
Telerman-Toppet N, Bauherz G, Noel S (1991) Auriculo-ventricular block and distal myopathy with rimmed vacuoles and desmin storage. Clin Neuropathol 10:61–64
Thornell LE, Edström L, Eriksson A, Henriksson KG, Ängqvist KA (1980) The distribution of intermediate filament protein (skeletin) in normal and diseased human muscle. An immunohistochemical and electron microscopic study. J Neurol Sci 47:153–170
Thornell LE, Erikson A, Edström L (1983) Intermediate filaments in human myopathies. In: Dowben RB, Shay JW (eds) Cell Muscle Motil. Plenum, New York, pp 85–135
Tidball JC (1992) Desmin at myotendinous junctions. Exp Cell Res 199:341–348
Tokuyasu KT, Dutton AH, Singer SJ (1983) Immunoelectron microscopic studies of desmin (skeletin) localization and intermediate filament organization in chicken skeletal muscle. J Cell Biol 96:1727–1735
Tokuyasu KT, Maher PA, Singer SJ (1984) Distributions of vimentin and desmin in developing chick myotubes in vivo. I. Immunofluorescence study. J Cell Biol 98:1961–1972
Tokuyasu KT, Maher PA, Singer SJ (1985) Distributions of vimentin and desmin in developing chicken myotubes in vivo. II. Immunoelectron microscopic study. J Cell Biol 100:1157–1166
Truong LD, Rangdaeng S, Cagle P, Ro JY, Hawkins H, Font RL (1990) The diagnostic utility of desmin. Clin Pathol 93:305–314
Viegas-Péquignot E, Lin LZ, Dutrillaux B, Apiou F, Paulin D (1989) Assignment of human desmin gene to band 2q35 by nonradioactive in situ hybridization. Hum Genet 83:33–36
Voit T, Krogmann O, Lenard HG, Neuen-Jacob E, Wechsler W, Goebel HH, Rahlf G, Lindinger A, Nienaber C (1988) Emery-Dreifuss muscular dystrophy: disease spectrum and differential diagnosis. Neuropediatrics 19:62–71
Voit T, Stuettgen P, Cremer M, Goebel HH (1991) Dystrophin as a diagnostic marker in Duchenne and Becker muscular dystrophy. Correlation of immunofluorescence and Western blot. Neuropediatrics 22:152–162
Wolburg H, Schlote W, Langohr HD, Peiffer J, Reiher KH, Heckl RW (1982) Slowly progressive congenital myopathy with cytoplasmic bodies-report of two cases and a review of the literature. Clin Neuropathol 1:55–56
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Goebel, H.H., Bornemann, A. Desmin pathology in neuromuscular diseases. Virchows Archiv B Cell Pathol 64, 127–135 (1993). https://doi.org/10.1007/BF02915105
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DOI: https://doi.org/10.1007/BF02915105