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MeSH Review


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Disease relevance of Torsion

  • Salusins are translated from an alternatively spliced mRNA of TOR2A, a gene encoding a protein of the torsion dystonia family [1].
  • The solution structure of the 48-kDa IIA(Man)-HPr complex of the mannose branch of the Escherichia coli phosphotransferase system has been solved by NMR using conjoined rigid body/torsion angle-simulated annealing on the basis of intermolecular nuclear Overhauser enhancement data and residual dipolar couplings [2].
  • Early-onset torsion dystonia is an autosomal dominant hyperkinetic movement disorder that has recently been linked to a 3-base pair deletion in the DYT1 gene [3].
  • Twenty-three children and 52 adults with torsion dystonia of various etiologies and distribution patterns of the involuntary movements were treated in an open-label study with anticholinergic medication [4].
  • Spastic dysphonia, Meige disease, and torsion dystonia [5].

Psychiatry related information on Torsion


High impact information on Torsion

  • SWI2/SNF2 ATPases remodel chromatin or other DNA:protein complexes by a poorly understood mechanism that involves ATP-dependent DNA translocation and generation of superhelical torsion [9].
  • We find that the ability to distort DNA is shared by the yeast SWI/SNF complex, Xenopus Mi-2 complex, recombinant ISWI, and recombinant BRG1, suggesting that the generation of superhelical torsion represents a primary biomechanical activity shared by all Snf2p-related ATPase motors [10].
  • The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein [11].
  • High-pressure and high-temperature torsion experiments on olivine aggregates in dislocation creep show about 15 to 20% strain weakening before steady-state behavior, characterized by subgrain-rotation recrystallization and a strong lattice preferred orientation [12].
  • Time-correlated single-photon counting of intercalated ethidium bromide was used to measure the torsion constants of positively supercoiled, relaxed, and negatively supercoiled pBR322 DNA, which range in superhelix density from +0.042 to -0.123 [13].

Chemical compound and disease context of Torsion

  • Comparison of the backbone and deoxyribose ring torsion angles with those found by previous (nuclear magnetic resonance spectroscopy) studies of this adduct in solution demonstrates that the solid state geometry is substantially the same as that in solution [14].
  • The glycosidic torsion angle of the [PhIP]dG residue is syn, and the displaced guanine base is directed toward the 3' end of the modified strand [15].
  • We have differentiated between syn and anti glycosidic torsion angles in nucleic acid duplexes by measuring the transient nuclear Overhauser effect (NOE) between the sugar H-1' protons and the purine H-8 and pyrimidine H-6 base protons [16].
  • The transient NOE measurements demonstrate a syn glycosidic torsion angle at guanosine and an anti glycosidic torsion angle at cytidine in poly(dG-dC) in 4 M NaCl and in poly(dG-m5dC) in 1.5 M NaCl solution [16].
  • PCK possesses a novel nucleotide-binding fold, particularly in the adenine-binding region, where the formation of a cis backbone torsion angle in a loop glycine residue promotes intimate contacts between the adenine-binding loop and adenine, while stabilizing a syn conformation of the base [17].

Biological context of Torsion

  • Human gene for torsion dystonia located on chromosome 9q32-q34 [18].
  • The NMR chemical shift parameters at the antibiotic-free base pair regions in the P/D = 50 complex suggest changes in the glycosidic torsion angles of the deoxyadenosine and thymidine residues and less pronounced changes in the base pair overlap geometries [19].
  • By rotating the alpha, beta, gamma, delta, epsilon, and zeta torsion angles of the phosphate linkage of residue 17, the nucleobase at the cleavage site was slightly rotated out of the active site toward the solution [20].
  • During dobutamine infusion, torsion at end systole was greater and reversal during isovolumic relaxation was much more rapid and greater in extent (p less than 0.01) [21].
  • The clinical phenotype of X-linked recessive torsion dystonia was documented in 42 affected individuals from 21 families [22].

Anatomical context of Torsion


Gene context of Torsion

  • Measured cross-peak volumes for CRABP-II bound retinoic acid were well predicted by a single, static conformational having a 6-s torsion angle of -60 degrees skewed from a cis conformation [27].
  • The TOR1A (DYT1) gene family and its role in early onset torsion dystonia [28].
  • CONCLUSIONS: These findings show that a proportion of patients with apparent primary torsion dystonia and a good response to anticholinergic drugs have GCH1 mutations and therefore have a variant of dopa responsive dystonia [29].
  • However, it is noteworthy that the gene for torsion dystonia has also been localized by genetic studies to 9q34.3, the same regional map location as NMDAR1 [30].
  • Phenotypic characterization of DYT13 primary torsion dystonia [31].

Analytical, diagnostic and therapeutic context of Torsion


  1. Salusins: newly identified bioactive peptides with hemodynamic and mitogenic activities. Shichiri, M., Ishimaru, S., Ota, T., Nishikawa, T., Isogai, T., Hirata, Y. Nat. Med. (2003) [Pubmed]
  2. Solution NMR structure of the 48-kDa IIAMannose-HPr complex of the Escherichia coli mannose phosphotransferase system. Williams, D.C., Cai, M., Suh, J.Y., Peterkofsky, A., Clore, G.M. J. Biol. Chem. (2005) [Pubmed]
  3. Torsin A and its torsion dystonia-associated mutant forms are lumenal glycoproteins that exhibit distinct subcellular localizations. Kustedjo, K., Bracey, M.H., Cravatt, B.F. J. Biol. Chem. (2000) [Pubmed]
  4. High dosage anticholinergic therapy in dystonia. Fahn, S. Neurology (1983) [Pubmed]
  5. Spastic dysphonia, Meige disease, and torsion dystonia. Marsden, C.D., Sheehy, M.P. Neurology (1982) [Pubmed]
  6. Selective D-1 dopamine receptor agonist effects in hyperkinetic extrapyramidal disorders. Braun, A., Mouradian, M.M., Mohr, E., Fabbrini, G., Chase, T.N. J. Neurol. Neurosurg. Psychiatr. (1989) [Pubmed]
  7. Motor inhibition from the brainstem is normal in torsion dystonia during REM sleep. Fish, D.R., Sawyers, D., Smith, S.J., Allen, P.J., Murray, N.M., Marsden, C.D. J. Neurol. Neurosurg. Psychiatr. (1991) [Pubmed]
  8. Monoamine metabolites and neuropeptides in patients with Parkinson's disease, Huntington's chorea, Shy-Drager syndrome, and torsion dystonia. Lindvall, B., Olsson, J.E. Advances in neurology. (1990) [Pubmed]
  9. X-ray structures of the Sulfolobus solfataricus SWI2/SNF2 ATPase core and its complex with DNA. Dürr, H., Körner, C., Müller, M., Hickmann, V., Hopfner, K.P. Cell (2005) [Pubmed]
  10. Generation of superhelical torsion by ATP-dependent chromatin remodeling activities. Havas, K., Flaus, A., Phelan, M., Kingston, R., Wade, P.A., Lilley, D.M., Owen-Hughes, T. Cell (2000) [Pubmed]
  11. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Ozelius, L.J., Hewett, J.W., Page, C.E., Bressman, S.B., Kramer, P.L., Shalish, C., de Leon, D., Brin, M.F., Raymond, D., Corey, D.P., Fahn, S., Risch, N.J., Buckler, A.J., Gusella, J.F., Breakefield, X.O. Nat. Genet. (1997) [Pubmed]
  12. High shear strain of olivine aggregates: rheological and seismic consequences. Bystricky, M., Kunze, K., Burlini, L., Burg, J. Science (2000) [Pubmed]
  13. Torsional rigidity of positively and negatively supercoiled DNA. Selvin, P.R., Cook, D.N., Pon, N.G., Bauer, W.R., Klein, M.P., Hearst, J.E. Science (1992) [Pubmed]
  14. X-ray structure of the major adduct of the anticancer drug cisplatin with DNA: cis-[Pt(NH3)2(d(pGpG))]. Sherman, S.E., Gibson, D., Wang, A.H., Lippard, S.J. Science (1985) [Pubmed]
  15. Solution structure of the 2-amino-1- methyl-6-phenylimidazo[4,5-b]pyridine C8-deoxyguanosine adduct in duplex DNA. Brown, K., Hingerty, B.E., Guenther, E.A., Krishnan, V.V., Broyde, S., Turteltaub, K.W., Cosman, M. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  16. Right-handed and left-handed DNA: studies of B- and Z-DNA by using proton nuclear Overhauser effect and P NMR. Patel, D.J., Kozlowski, S.A., Nordheim, A., Rich, A. Proc. Natl. Acad. Sci. U.S.A. (1982) [Pubmed]
  17. Snapshot of an enzyme reaction intermediate in the structure of the ATP-Mg2+-oxalate ternary complex of Escherichia coli PEP carboxykinase. Tari, L.W., Matte, A., Pugazhenthi, U., Goldie, H., Delbaere, L.T. Nat. Struct. Biol. (1996) [Pubmed]
  18. Human gene for torsion dystonia located on chromosome 9q32-q34. Ozelius, L., Kramer, P.L., Moskowitz, C.B., Kwiatkowski, D.J., Brin, M.F., Bressman, S.B., Schuback, D.E., Falk, C.T., Risch, N., de Leon, D. Neuron (1989) [Pubmed]
  19. Netropsin-poly(dA-dT) complex in solution: structure and dynamics of antibiotic-free base pair regions and those centered on bound netropsin. Patel, D.J., Canuel, L.L. Proc. Natl. Acad. Sci. U.S.A. (1977) [Pubmed]
  20. Molecular dynamics study displays near in-line attack conformations in the hammerhead ribozyme self-cleavage reaction. Torres, R.A., Bruice, T.C. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  21. Dissociation between left ventricular untwisting and filling. Accentuation by catecholamines. Rademakers, F.E., Buchalter, M.B., Rogers, W.J., Zerhouni, E.A., Weisfeldt, M.L., Weiss, J.L., Shapiro, E.P. Circulation (1992) [Pubmed]
  22. The phenotype of the X-linked dystonia-parkinsonism syndrome. An assessment of 42 cases in the Philippines. Lee, L.V., Kupke, K.G., Caballar-Gonzaga, F., Hebron-Ortiz, M., Müller, U. Medicine (Baltimore) (1991) [Pubmed]
  23. Expression of the early-onset torsion dystonia gene (DYT1) in human brain. Augood, S.J., Penney, J.B., Friberg, I.K., Breakefield, X.O., Young, A.B., Ozelius, L.J., Standaert, D.G. Ann. Neurol. (1998) [Pubmed]
  24. Cholesterol and phospholipids in cultured skin fibroblasts from patients with dystonia. Maltese, W.A., De Vivo, D.C. Ann. Neurol. (1984) [Pubmed]
  25. P-31 MR spectroscopy in assessing testicular torsion: rat model. Tzika, A.A., Vigneron, D.B., Hricak, H., Moseley, M.E., James, T.L., Kogan, B.A. Radiology. (1989) [Pubmed]
  26. Hydrosalpinx and tubal torsion: a late complication of tubal ligation. Russin, L.D. Radiology. (1986) [Pubmed]
  27. Nuclear magnetic resonance studies demonstrate differences in the interaction of retinoic acid with two highly homologous cellular retinoic acid binding proteins. Norris, A.W., Rong, D., d'Avignon, D.A., Rosenberger, M., Tasaki, K., Li, E. Biochemistry (1995) [Pubmed]
  28. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Ozelius, L.J., Page, C.E., Klein, C., Hewett, J.W., Mineta, M., Leung, J., Shalish, C., Bressman, S.B., de Leon, D., Brin, M.F., Fahn, S., Corey, D.P., Breakefield, X.O. Genomics (1999) [Pubmed]
  29. GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. Jarman, P.R., Bandmann, O., Marsden, C.D., Wood, N.W. J. Neurol. Neurosurg. Psychiatr. (1997) [Pubmed]
  30. Mapping of the human NMDA receptor subunit (NMDAR1) and the proposed NMDA receptor glutamate-binding subunit (NMDARA1) to chromosomes 9q34.3 and chromosome 8, respectively. Collins, C., Duff, C., Duncan, A.M., Planells-Cases, R., Sun, W., Norremolle, A., Michaelis, E., Montal, M., Worton, R., Hayden, M.R. Genomics (1993) [Pubmed]
  31. Phenotypic characterization of DYT13 primary torsion dystonia. Bentivoglio, A.R., Ialongo, T., Contarino, M.F., Valente, E.M., Albanese, A. Mov. Disord. (2004) [Pubmed]
  32. Effect of alcohol on dystonia. Biary, N., Koller, W. Neurology (1985) [Pubmed]
  33. Quantitative evaluation of the effects of L-dopa in torsion dystonia: a case report. Richards, C.L., Bédard, P.J., Fortin, G., Malouin, F. Neurology (1983) [Pubmed]
  34. Catalysis by entropic guidance from enzymes. Young, L., Post, C.B. Biochemistry (1996) [Pubmed]
  35. Polysomnography of torsion dystonia. Jankel, W.R., Niedermeyer, E., Graf, M., Kalsher, M. Arch. Neurol. (1984) [Pubmed]
  36. Molecular pathway of germ cell apoptosis following ischemia/reperfusion of the rat testis. Lysiak, J.J., Turner, S.D., Turner, T.T. Biol. Reprod. (2000) [Pubmed]
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