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Tor1a  -  torsin family 1, member A

Rattus norvegicus

Synonyms: Dystonia 1 protein, Dyt1, Torsin ATPase 1, Torsin-1A
 
 
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Disease relevance of Dyt1

 

Psychiatry related information on Dyt1

 

High impact information on Dyt1

  • GDNF induces a dystonia-like state in neonatal rats and stimulates dopamine and serotonin synthesis [11].
  • Apart from animal models of symptomatic dystonia, genetic animal models with inherited dystonia which occurs in the absence of pathomorphological alterations in brain and spinal cord are describe [3].
  • By locating 3,4-dihydroxy-phenylalanine-responsive dystonia mutations in the complex structure, we found mutations that may possibly disturb the GFRP-mediated regulation of GTPCHI [12].
  • This finding suggests that failure of calcium binding may be the consequence of a mutation recently identified in the causative GTP cyclohydrolase I gene of patients suffering from dopa responsive dystonia [13].
  • 1,3-Di-o-tolylguanidine (DTG), a highly selective ligand for the haloperidol-sensitive sigma-receptor, produced marked dystonia in rats after microinjection into the red nucleus, a motor area rich in this receptor [14].
 

Chemical compound and disease context of Dyt1

  • Serum trihexyphenidyl levels in the treatment of torsion dystonia [15].
  • MPTP-treated monkeys displayed a significant worsening of parkinsonism and a loss of levodopa-responsiveness after the appearance of hindlimb dystonia and striatal lesion formation induced by subsequent 3-NP intoxication [16].
  • Repeated or chronic administration of this metal in man or animals is known to result in a brain dopamine and/or serotonin deficit commensurate with the clinical manifestations of bradykinesia and dystonia [17].
  • Prolonged exposure to manganese in mammals may cause an extrapyramidal disorder characterized by dystonia and rigidity [18].
  • Such interaction between these drugs may attenuate the beneficial effects of tetrabenazine and reserpine on patients with tardive dyskinesia or tardive dystonia who are treated concurrently with lithium for their psychiatric disorder [19].
 

Biological context of Dyt1

  • Childhood-onset dystonia is an autosomal dominant movement disorder associated with a three base pair (GAG) deletion mutation in the DYT1 gene [20].
  • Furthermore, the time course of torsinA expression in discrete components of motor networks is compatible with the temporal window of clinical penetrance in DYT1 mutation carriers [21].
  • Regarding behavioral toxicology, JL 13 did not produce dystonia or Parkinsonian symptoms in haloperidol-sensitized monkeys [22].
 

Anatomical context of Dyt1

  • SNAP produced dose-dependent convulsions similar to those associated with limbic stimulation, such as tonic extension of the hindlimbs and tail, and dystonia of the forepaws [23].
  • Deep brain stimulation is associated with delayed improvement of parkinsonian symptoms, such as hypokinesia with subthalamic nucleus stimulation, or dystonia with globus pallidus internus stimulation [24].
  • Haloperidol-sensitive sigma receptor and the role of the pineal gland in dystonia [25].
  • The degree of dystonia produced by a single dose of DTG was significantly correlated with the amount of [3H]DTG bound to rat brain synaptosomal membranes at low but not at high concentrations [26].
  • Although a single solid graft of embryonic DA neurons can prevent progression of some lesioned-induced behavioral abnormalities such as LD-induced rotation and dystonia, it significantly increases hyperkinetic movements of the contralateral forelimb [27].
 

Associations of Dyt1 with chemical compounds

  • Using a radioreceptor technique, we assayed serum trihexyphenidyl levels in patients with dystonia being treated chronically with high dosage [15].
  • Experimental dystonia induced by quaternary-chlorpromazine [28].
  • The increase in serotonin correlated with the reported potentiation of dystonia in animals that received 28 days treatment with these drugs [29].
  • BD1047 and BD1063 dose-dependently attenuated the dystonia produced by DTG, suggesting a receptor-mediated mechanism, and the dose curve for DTG was shifted to the right in the presence of the novel ligands [30].
  • The mechanism of clozapine potentiation of raclopride action may contribute to the clinically observed post-clozapine dystonia [31].
 

Other interactions of Dyt1

 

Analytical, diagnostic and therapeutic context of Dyt1

  • Pathology of idiopathic dystonia: findings from genetic animal models [3].
  • In addition to partial denervation, Botulinum toxin effects in dystonia may also be related to modified spindle afferent discharge [36].

References

  1. TorsinA in PC12 cells: localization in the endoplasmic reticulum and response to stress. Hewett, J., Ziefer, P., Bergeron, D., Naismith, T., Boston, H., Slater, D., Wilbur, J., Schuback, D., Kamm, C., Smith, N., Camp, S., Ozelius, L.J., Ramesh, V., Hanson, P.I., Breakefield, X.O. J. Neurosci. Res. (2003) [Pubmed]
  2. Modulation of torsinA expression in the globus pallidus internus is associated with levodopa-induced dyskinesia in hemiparkinsonian rats. Yamada, K., Goto, S., Kaji, R., Kuratsu, J. Neurosci. Lett. (2006) [Pubmed]
  3. Pathology of idiopathic dystonia: findings from genetic animal models. Richter, A., Löscher, W. Prog. Neurobiol. (1998) [Pubmed]
  4. Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms. Rodacker, V., Toustrup-Jensen, M., Vilsen, B. J. Biol. Chem. (2006) [Pubmed]
  5. Dystonin is essential for maintaining neuronal cytoskeleton organization. Dalpé, G., Leclerc, N., Vallée, A., Messer, A., Mathieu, M., De Repentigny, Y., Kothary, R. Mol. Cell. Neurosci. (1998) [Pubmed]
  6. Decreased GTP-stimulated adenylyl cyclase activity in HPRT-deficient human and mouse fibroblast and rat B103 neuroblastoma cell membranes. Pinto, C.S., Seifert, R. J. Neurochem. (2006) [Pubmed]
  7. Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines. Pinto, C.S., Jinnah, H.A., Shirley, T.L., Nyhan, W.L., Seifert, R. J. Neurochem. (2005) [Pubmed]
  8. Major strain differences in response to chronic systemic administration of the mitochondrial toxin 3-nitropropionic acid in rats: implications for neuroprotection studies. Ouary, S., Bizat, N., Altairac, S., Ménétrat, H., Mittoux, V., Condé, F., Hantraye, P., Brouillet, E. Neuroscience (2000) [Pubmed]
  9. Subthalamic high frequency stimulation induced rotations are differentially mediated by D1 and D2 receptors. Bergmann, O., Winter, C., Meissner, W., Harnack, D., Kupsch, A., Morgenstern, R., Reum, T. Neuropharmacology (2004) [Pubmed]
  10. Propranolol attenuates haloperidol-induced Fos expression in discrete regions of rat brain: possible brain regions responsible for akathisia. Ohashi, K., Hamamura, T., Lee, Y., Fujiwara, Y., Kuroda, S. Brain Res. (1998) [Pubmed]
  11. GDNF induces a dystonia-like state in neonatal rats and stimulates dopamine and serotonin synthesis. Beck, K.D., Irwin, I., Valverde, J., Brennan, T.J., Langston, J.W., Hefti, F. Neuron (1996) [Pubmed]
  12. Structural basis of biopterin-induced inhibition of GTP cyclohydrolase I by GFRP, its feedback regulatory protein. Maita, N., Hatakeyama, K., Okada, K., Hakoshima, T. J. Biol. Chem. (2004) [Pubmed]
  13. Rat GTP cyclohydrolase I is a homodecameric protein complex containing high-affinity calcium-binding sites. Steinmetz, M.O., Plüss, C., Christen, U., Wolpensinger, B., Lustig, A., Werner, E.R., Wachter, H., Engel, A., Aebi, U., Pfeilschifter, J., Kammerer, R.A. J. Mol. Biol. (1998) [Pubmed]
  14. Evidence for a role of haloperidol-sensitive sigma-'opiate' receptors in the motor effects of antipsychotic drugs. Walker, J.M., Matsumoto, R.R., Bowen, W.D., Gans, D.L., Jones, K.D., Walker, F.O. Neurology (1988) [Pubmed]
  15. Serum trihexyphenidyl levels in the treatment of torsion dystonia. Burke, R.E., Fahn, S. Neurology (1985) [Pubmed]
  16. In vivo models of multiple system atrophy. Fernagut, P.O., Ghorayeb, I., Diguet, E., Tison, F. Mov. Disord. (2005) [Pubmed]
  17. Behavioral effects in rats following intrastriatal microinjection of manganese. Inoue, N., Tsukada, Y., Barbeau, A. Brain Res. (1975) [Pubmed]
  18. Selective vulnerability of pallidal neurons in the early phases of manganese intoxication. Spadoni, F., Stefani, A., Morello, M., Lavaroni, F., Giacomini, P., Sancesario, G. Experimental brain research. Experimentelle Hirnforschung. Expérimentation cérébrale. (2000) [Pubmed]
  19. Lithium attenuates dopamine depleting effects of reserpine and tetrabenazine but not that of alpha methyl-p-tyrosine. Reches, A., Hassan, M.N., Jackson, V.R., Fahn, S. Life Sci. (1983) [Pubmed]
  20. Overexpression of torsinA in PC12 cells protects against toxicity. Shashidharan, P., Paris, N., Sandu, D., Karthikeyan, L., McNaught, K.S., Walker, R.H., Olanow, C.W. J. Neurochem. (2004) [Pubmed]
  21. Developmental expression of rat torsinA transcript and protein. Xiao, J., Gong, S., Zhao, Y., LeDoux, M.S. Brain Res. Dev. Brain Res. (2004) [Pubmed]
  22. JL 13, an atypical antipsychotic: a preclinical review. Ellenbroek, B.A., Liégeois, J.F. CNS drug reviews. (2003) [Pubmed]
  23. Neurotoxicity in conscious rats following intraventricular SNAP, a nitric oxide donor. Gross, P.M., Weaver, D.F., Bowers, R.J., Nag, S., Ho, L.T., Pang, J.J., Espinosa, F.J. Neuropharmacology (1994) [Pubmed]
  24. Induction of immediate early gene expression by high-frequency stimulation of the subthalamic nucleus in rats. Schulte, T., Brecht, S., Herdegen, T., Illert, M., Mehdorn, H.M., Hamel, W. Neuroscience (2006) [Pubmed]
  25. Haloperidol-sensitive sigma receptor and the role of the pineal gland in dystonia. Sandyk, R. Schizophr. Res. (1991) [Pubmed]
  26. Sigma binding parameters in developing rats predict behavioral efficacy of a sigma ligand. Hemstreet, M.K., Matsumoto, R.R., Bowen, W.D., Walker, J.M. Brain Res. (1993) [Pubmed]
  27. Embryonic mesencephalic grafts increase levodopa-induced forelimb hyperkinesia in parkinsonian rats. Steece-Collier, K., Collier, T.J., Danielson, P.D., Kurlan, R., Yurek, D.M., Sladek, J.R. Mov. Disord. (2003) [Pubmed]
  28. Experimental dystonia induced by quaternary-chlorpromazine. Rotrosen, J., Stanley, M., Kuhn, C., Wazer, D., Gershon, S. Neurology (1980) [Pubmed]
  29. The functional sensitisation of sigma receptors following chronic selective serotonin reuptake inhibitor treatment. Faherty, C.J., Harkin, A.J., Leonard, B.E. Eur. J. Pharmacol. (1998) [Pubmed]
  30. Characterization of two novel sigma receptor ligands: antidystonic effects in rats suggest sigma receptor antagonism. Matsumoto, R.R., Bowen, W.D., Tom, M.A., Vo, V.N., Truong, D.D., De Costa, B.R. Eur. J. Pharmacol. (1995) [Pubmed]
  31. Clozapine pre-treatment enhances raclopride catalepsy. Wadenberg, M.L., Seeman, P. Eur. J. Pharmacol. (1999) [Pubmed]
  32. Glutamic acid decarboxylase activity in micropunches of the deep cerebellar nuclei of the genetically dystonic (dt) rat. Oltmans, G.A., Beales, M., Lorden, J.F. Brain Res. (1986) [Pubmed]
  33. An evaluation of sustained postural abnormalities in rats induced by intracerebro-ventricular injection of chlorpromazine methiodide or somatostatin as models of dystonia. Burke, R.E., Fahn, S. Advances in neurology. (1988) [Pubmed]
  34. Immunohistochemical study of TAFII250 in the rat laryngeal nervous system. Okano, H., Bamba, H., Hisa, Y., Makino, S., Ando, S., Tamiya, G., Goto, S., Kaji, R., Kimura, H., Tooyama, I. Histol. Histopathol. (2005) [Pubmed]
  35. Role of endothelin receptor subtypes in the behavioral effects of the intracerebroventricular administration of endothelin-1 in conscious rats. Nagasaka, J., Tsuji, M., Takeda, H., Matsumiya, T. Pharmacol. Biochem. Behav. (1999) [Pubmed]
  36. Extrafusal and intrafusal muscle effects in experimental botulinum toxin-A injection. Rosales, R.L., Arimura, K., Takenaga, S., Osame, M. Muscle Nerve (1996) [Pubmed]
 
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