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DES  -  desmin

Homo sapiens

Synonyms: CMD1I, CSM1, CSM2, Desmin, LGMD2R
 
 
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Disease relevance of DES

 

Psychiatry related information on DES

  • Factors for which the evidence of an etiologic role has mounted over the past several years, but which are not yet considered to be established, include the protective effects of parity and lactation in certain age groups and the increased risks associated with alcohol consumption and with DES exposure during pregnancy [5].
  • In recent years aluminum has been implicated as a possible etiological agent in DES and in Alzheimer's Disease. A common finding in these two conditions is an elevated brain aluminum content [6].
  • This study measured somatization (Screening Test for Somatoform Symptoms-2), dissociation (Dissociative Experience Scale, DES), and general psychopathology (Symptom Checklist-90-Revised, SCL-90) in 98 patients with PNES and 63 patients with epilepsy [7].
  • The depression group had experienced significantly higher numbers of traumatic incidents, had higher average DES scores, and more frequently met diagnostic criteria for PTSD [8].
  • Test-retest reliabilities within diagnostic groups of multiple personality disorder, dissociative disorder not otherwise specified, and a general other category of psychiatric diagnoses were obtained for total and subscale scores on the DES [9].
 

High impact information on DES

  • Among the myofibrillar proteins that characteristically accumulate within the muscle fibers of affected patients, the one found most consistently is desmin, a muscle-specific intermediate-filament protein responsible for the structural integrity of the myofibrils [10].
  • BACKGROUND: Myofibrillar myopathies, often referred to as desmin-related myopathies, are a heterogeneous group of inherited or sporadic distal-onset skeletal myopathies associated with cardiomyopathy [10].
  • RESULTS: Six missense mutations in the coding region of the desmin gene that cause the substitution of an amino acid were identified in 11 patients (10 members of 4 families and 1 patient with sporadic disease); a splicing defect that resulted in the deletion of exon 3 was identified in the other patient with sporadic disease [10].
  • Expression vectors containing normal or mutant desmin cDNA were introduced into cultured cells to determine whether the mutant desmin formed intermediate filaments [10].
  • Muscle cell lines transfected with the mutant CRYAB cDNA showed intracellular aggregates that contain both desmin and alphaB-crystallin as observed in muscle fibers from DRM patients [11].
 

Chemical compound and disease context of DES

  • Acridine orange fluorochrome distinguished vimentin/desmin-reactive myofibres that were regenerating from those of developmental myopathies because the RNA fluorescence was strong in regenerating myofibres and in fetal myotubes, but was absent from myofibres in developmental disorders of muscle [12].
  • So-called fibroepithelial polyps of the vagina exhibiting an unusual but uniform antigen profile characterized by expression of desmin and steroid hormone receptors but no muscle-specific actin or macrophage markers [13].
  • To evaluate the immunoexpression of desmin and actins in spindle cell lipomas of different histological subtypes a retrospective immunohistochemical study of 25 spindle cell lipomas using archival formalin-fixed, paraffin-embedded tissue was performed [14].
  • The demonstration of desmin by the monoclonal antibody which was used on the formaldehyde-fixed, paraffin-embedded material is of particular value in the diagnosis of rhabdomyosarcoma [15].
  • In saphenous vein grafts showing occlusive intimal hyperplasia (luminal stenosis > 76%), desmin expression in smooth muscle cells was increased again, and such cells were of a contractile form, suggesting remodulation from the synthetic phenotype [16].
 

Biological context of DES

  • With these antibodies, phosphorylation of desmin was observed specifically at the cleavage furrow in late mitotic Saos-2 cells [17].
  • Use of an antibody that specifically recognized desmin phosphorylated at Ser-59 led to the finding that the site is also phosphorylated specifically at the cleavage furrow during cytokinesis in Saos-2 cells [18].
  • Analysis of stably transfected cell lines indicates that the inability of desmin to form extended networks is not due to a difference in the level of transgene expression [19].
  • Vimentin and desmin are both strongly expressed in fetal myotubes and their immunohistochemical demonstration persists until 36 weeks' gestation [4].
  • The myoid, primarily myofibroblastic, phenotype of these lesions is supported by desmin, calponin, and occasional actin positivity [20].
 

Anatomical context of DES

 

Associations of DES with chemical compounds

 

Physical interactions of DES

 

Enzymatic interactions of DES

 

Co-localisations of DES

 

Regulatory relationships of DES

  • The two biphasic mesotheliomas which expressed desmin also expressed smooth muscle actin but were negative for myoglobin [35].
  • METHODS AND RESULTS: To determine whether a defect of desmin induces dilated cardiomyopathy, 44 probands with FDCM underwent clinical evaluation and DNA analysis [36].
  • We have analysed patients with desmin accumulation and have found that syncoilin is both upregulated at the sarcolemma and aggregates with desmin indicating the presence of two distinct protein populations [29].
  • Kidney RNA polymerase (RNA pol) I and III activities were significantly inhibited by 50% at days 8 and 15 of DES exposure compared to that of controls [37].
  • Furthermore, zeranol inhibited both the arachidonic acid and the hydrogen-peroxide-dependent oxidation of DES in contrast to indomethacin which inhibited only cyclooxygenase-dependent co-oxidation of DES [38].
 

Other interactions of DES

 

Analytical, diagnostic and therapeutic context of DES

References

  1. Human immunodeficiency virus type 1 protease cleaves the intermediate filament proteins vimentin, desmin, and glial fibrillary acidic protein. Shoeman, R.L., Höner, B., Stoller, T.J., Kesselmeier, C., Miedel, M.C., Traub, P., Graves, M.C. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  2. Expression of developmentally regulated muscle proteins in rhabdomyosarcomas. Wijnaendts, L.C., van der Linden, J.C., van Unnik, A.J., Delemarre, J.F., Barbet, J.P., Butler-Browne, G.S., Meijer, C.J. Am. J. Pathol. (1994) [Pubmed]
  3. Intermediate filament interactions can be altered by HSP27 and alphaB-crystallin. Perng, M.D., Cairns, L., van den IJssel, P., Prescott, A., Hutcheson, A.M., Quinlan, R.A. J. Cell. Sci. (1999) [Pubmed]
  4. Vimentin and desmin in maturing skeletal muscle and developmental myopathies. Sarnat, H.B. Neurology (1992) [Pubmed]
  5. The epidemiology of breast cancer. Kelsey, J.L., Gammon, M.D. CA: a cancer journal for clinicians. (1991) [Pubmed]
  6. The clinical biochemistry of aluminum. King, S.W., Savory, J., Wills, M.R. Critical reviews in clinical laboratory sciences. (1981) [Pubmed]
  7. Somatization, dissociation and general psychopathology in patients with psychogenic non-epileptic seizures. Reuber, M., House, A.O., Pukrop, R., Bauer, J., Elger, C.E. Epilepsy Res. (2003) [Pubmed]
  8. Posttraumatic stress disorder, dissociation, and trauma exposure in depressed and nondepressed veterans. Wilkeson, A., Lambert, M.T., Petty, F. J. Nerv. Ment. Dis. (2000) [Pubmed]
  9. Psychometric properties of the Dissociative Experiences Scale. Dubester, K.A., Braun, B.G. J. Nerv. Ment. Dis. (1995) [Pubmed]
  10. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. Dalakas, M.C., Park, K.Y., Semino-Mora, C., Lee, H.S., Sivakumar, K., Goldfarb, L.G. N. Engl. J. Med. (2000) [Pubmed]
  11. A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Vicart, P., Caron, A., Guicheney, P., Li, Z., Prévost, M.C., Faure, A., Chateau, D., Chapon, F., Tomé, F., Dupret, J.M., Paulin, D., Fardeau, M. Nat. Genet. (1998) [Pubmed]
  12. Vimentin/desmin immunoreactivity of myofibres in developmental myopathies. Sarnat, H.B. Acta paediatrica Japonica; Overseas edition. (1991) [Pubmed]
  13. So-called fibroepithelial polyps of the vagina exhibiting an unusual but uniform antigen profile characterized by expression of desmin and steroid hormone receptors but no muscle-specific actin or macrophage markers. Hartmann, C.A., Sperling, M., Stein, H. Am. J. Clin. Pathol. (1990) [Pubmed]
  14. Desmin expression in spindle cell lipomas: a potential diagnostic pitfall. Tardío, J.C., Aramburu, J.A., Santonja, C. Virchows Arch. (2004) [Pubmed]
  15. Rhabdomyosarcoma in middle-aged and elderly individuals. Seidal, T., Kindblom, L.G., Angervall, L. APMIS (1989) [Pubmed]
  16. Immunohistochemical and ultrastructural examination of smooth muscle cells in aortocoronary saphenous vein grafts. Yamada, T., Shiraishi, R., Taki, K., Nakano, S., Tokunaga, O., Itoh, T. Angiology. (1997) [Pubmed]
  17. Balance between activities of Rho kinase and type 1 protein phosphatase modulates turnover of phosphorylation and dynamics of desmin/vimentin filaments. Inada, H., Togashi, H., Nakamura, Y., Kaibuchi, K., Nagata, K., Inagaki, M. J. Biol. Chem. (1999) [Pubmed]
  18. Functional significance of the specific sites phosphorylated in desmin at cleavage furrow: Aurora-B may phosphorylate and regulate type III intermediate filaments during cytokinesis coordinatedly with Rho-kinase. Kawajiri, A., Yasui, Y., Goto, H., Tatsuka, M., Takahashi, M., Nagata, K., Inagaki, M. Mol. Biol. Cell (2003) [Pubmed]
  19. Paranemin and the organization of desmin filament networks. Schweitzer, S.C., Klymkowsky, M.W., Bellin, R.M., Robson, R.M., Capetanaki, Y., Evans, R.M. J. Cell. Sci. (2001) [Pubmed]
  20. Angiomatoid "malignant" fibrous histiocytoma: a clinicopathologic study of 158 cases and further exploration of the myoid phenotype. Fanburg-Smith, J.C., Miettinen, M. Hum. Pathol. (1999) [Pubmed]
  21. An immunohistochemical study comparing clear cell sarcoma of the kidney and Wilms' tumor. Looi, L.M., Cheah, P.L. Pathology. (1993) [Pubmed]
  22. Differential organization of desmin and vimentin in muscle is due to differences in their head domains. Cary, R.B., Klymkowsky, M.W. J. Cell Biol. (1994) [Pubmed]
  23. Aortic smooth muscle cells contain vimentin instead of desmin. Frank, E.D., Warren, L. Proc. Natl. Acad. Sci. U.S.A. (1981) [Pubmed]
  24. Primary rhabdomyosarcoma of the cerebellum--a light, electron microscopic, and immunohistochemical study. Hinton, D.R., Halliday, W.C. J. Neuropathol. Exp. Neurol. (1984) [Pubmed]
  25. A cloned human germ cell tumor-derived cell line differentiating in culture. Tienari, J., Reima, I., Larramendy, M.L., Knuutila, S., von Boguslawsky, K., Kaartinen, M., Virtanen, I., Lehtonen, E. Int. J. Cancer (1998) [Pubmed]
  26. Molecular characteristics and interactions of the intermediate filament protein synemin. Interactions with alpha-actinin may anchor synemin-containing heterofilaments. Bellin, R.M., Sernett, S.W., Becker, B., Ip, W., Huiatt, T.W., Robson, R.M. J. Biol. Chem. (1999) [Pubmed]
  27. Colocalization of nestin and vimentin/desmin in skeletal muscle cells demonstrated by three-dimensional fluorescence digital imaging microscopy. Sjöberg, G., Jiang, W.Q., Ringertz, N.R., Lendahl, U., Sejersen, T. Exp. Cell Res. (1994) [Pubmed]
  28. Molecular dissection of the interaction of desmin with the C-terminal region of nebulin. Bang, M.L., Gregorio, C., Labeit, S. J. Struct. Biol. (2002) [Pubmed]
  29. Syncoilin accumulation in two patients with desmin-related myopathy. Howman, E.V., Sullivan, N., Poon, E.P., Britton, J.E., Hilton-Jones, D., Davies, K.E. Neuromuscul. Disord. (2003) [Pubmed]
  30. Arrhythmogenic right ventricular dysplasia, a cell adhesion cardiomyopathy: insights into disease pathogenesis from preliminary genotype--phenotype assessment. Tsatsopoulou, A.A., Protonotarios, N.I., McKenna, W.J. Heart (2006) [Pubmed]
  31. Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin. Mizuno, Y., Thompson, T.G., Guyon, J.R., Lidov, H.G., Brosius, M., Imamura, M., Ozawa, E., Watkins, S.C., Kunkel, L.M. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  32. Characterization of the hamster desmin gene: expression and formation of desmin filaments in nonmuscle cells after gene transfer. Quax, W., van den Broek, L., Egberts, W.V., Ramaekers, F., Bloemendal, H. Cell (1985) [Pubmed]
  33. Smoothelin expression characteristics: development of a smooth muscle cell in vitro system and identification of a vascular variant. van Eys, G.J., Völler, M.C., Timmer, E.D., Wehrens, X.H., Small, J.V., Schalken, J.A., Ramaekers, F.C., van der Loop, F.T. Cell Struct. Funct. (1997) [Pubmed]
  34. Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton. Schröder, R., Fürst, D.O., Klasen, C., Reimann, J., Herrmann, H., van der Ven, P.F. Lab. Invest. (2000) [Pubmed]
  35. Intermediate filament expression in mesotheliomas: leiomyoid mesotheliomas are not uncommon. Mayall, F.G., Goddard, H., Gibbs, A.R. Histopathology (1992) [Pubmed]
  36. Desmin mutation responsible for idiopathic dilated cardiomyopathy. Li, D., Tapscoft, T., Gonzalez, O., Burch, P.E., Quiñones, M.A., Zoghbi, W.A., Hill, R., Bachinski, L.L., Mann, D.L., Roberts, R. Circulation (1999) [Pubmed]
  37. Organ-specific inhibition of types I, II and III transcriptional activity in hamsters exposed to stilbene estrogen. Palangat, M., Roy, D. Carcinogenesis (1995) [Pubmed]
  38. Interaction of phytoestrogens and other environmental estrogens with prostaglandin synthase in vitro. Degen, G.H. J. Steroid Biochem. (1990) [Pubmed]
  39. Identification of trichoplein, a novel keratin filament-binding protein. Nishizawa, M., Izawa, I., Inoko, A., Hayashi, Y., Nagata, K., Yokoyama, T., Usukura, J., Inagaki, M. J. Cell. Sci. (2005) [Pubmed]
  40. Evolution of homologous domains of cytoplasmic intermediate filament proteins and lamins. Blumenberg, M. Mol. Biol. Evol. (1989) [Pubmed]
  41. Angiomyofibroblastoma of the vulva and vagina. Nielsen, G.P., Rosenberg, A.E., Young, R.H., Dickersin, G.R., Clement, P.B., Scully, R.E. Mod. Pathol. (1996) [Pubmed]
  42. Impairment of the myocardial ultrastructure and changes of the cytoskeleton in dilated cardiomyopathy. Schaper, J., Froede, R., Hein, S., Buck, A., Hashizume, H., Speiser, B., Friedl, A., Bleese, N. Circulation (1991) [Pubmed]
  43. Leiomyosarcoma of somatic soft tissues in childhood: an immunohistochemical analysis of six cases with ultrastructural correlation. Swanson, P.E., Wick, M.R., Dehner, L.P. Hum. Pathol. (1991) [Pubmed]
  44. Immunocytochemical and quantitative study of actin, desmin and vimentin in the peritubular cells of the testes from elderly men. Arenas, M.I., Bethencourt, F.R., De Miguel, M.P., Fraile, B., Romo, E., Paniagua, R. J. Reprod. Fertil. (1997) [Pubmed]
 
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