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Gene Review

PNKD  -  paroxysmal nonkinesigenic dyskinesia

Homo sapiens

Synonyms: BRP17, DKFZp564N1362, DYT8, FKSG19, FPD1, ...
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Disease relevance of PNKD


Psychiatry related information on PNKD


High impact information on PNKD


Chemical compound and disease context of PNKD

  • The aim of this study was to describe the clinical features of a large Serbian family with paroxysmal nonkinesigenic dyskinesia (PNKD) and one of the two previously described mutations in the Myofibrillogenesis regulator 1 gene (MR-1), which causes an alanine-to-valine substitution at position 9 [9].
  • It is similar in heme content and redox potential to the well known cytochromes c(3) but related in structure to the cytochrome c domain of soluble fumarate reductases from Shewanella sp. We report the crystal structure of the small tetraheme cytochrome c from Shewanella oneidensis MR-1 in two crystal forms and two redox states [10].
  • L-glutamate per se was gliotoxic only at concentrations much higher than the maximum reached with the potent EAAT substrate inhibitor L-trans-pyrrolidine-2,4-dicarboxylate (PDC), and toxicity was lower [11].
  • Here we have demonstrated that a pure culture of Shewanella oneidensis strain MR-1 as well as enrichment cultures of Fe(III)-reducing bacteria from rice paddy soil and subsurface sediments are capable of conserving energy for growth with the structural Fe(III) bound in smectite clay as the sole electron acceptor [12].
  • The aim of this study was to determine the apoptotic cell death in 92 thyroid carcinomas of different histotypes (42 papillary, PTC; 12 poorly differentiated, PDC: 21 undifferentiated, UC; and 17 medullary, MC) by terminal deoxynucleotidyl transferase (TdT)-mediated dUTP-digoxigenin nick end labelling (TUNEL) [13].

Biological context of PNKD


Anatomical context of PNKD

  • The authors report the effect of chronic stimulation of the ventrointermediate (Vim) thalamus for treatment of dystonic paroxysmal nonkinesigenic dyskinesias (PNKD) [16].
  • Northern blot revealed that the mRNA level of MR-1 was highest in the skeletal muscle and certain level of MR-1 expression was also observed in heart, liver and kidney [17].
  • Immunohistochemical assay confirmed that the MR-1 protein existed in human myocardial myofibrils [17].
  • These studies suggested that MR-1 might play a regulatory role in the muscle cell and it was worth investigating further [17].
  • Selection and/or expansion of this population require B cells, and would involve a non-classical class I-related molecule MR1 [18].

Associations of PNKD with chemical compounds

  • We have narrowed the disease interval to 4 cM and our findings provide support for the involvement of the gene for the chloride/bicarbonate exchanger as a candidate gene for PDC [19].
  • The thymine and cytosine PNA monomers were used in conjunction with standard DNA synthesis monomers to produce chimeric PNA DNA (PDC) oligomers [20].
  • We propose that nigrostriatal neurons in PDC patients have either marginally deficient dopamine synthesis or excessive alcohol- and caffeine-induced dopamine release; and that following alcohol- and caffeine-induced dopamine release, PDC patients experience a period of dopamine deficiency [21].
  • Furthermore, the D439N mutation converted l-glutamate, THA, and PDC, which are activating substrates for the wild-type anion conductance, but not l-aspartate, into transient inhibitors of the EAAC1(D439) anion conductance [22].
  • Moreover, high glutamate concentrations offered protection against PDC [11].

Other interactions of PNKD


Analytical, diagnostic and therapeutic context of PNKD

  • These cases suggest that MMD should be included in the differential diagnosis of PKD and PNKD [3].
  • The MR-1 gene was cloned from human skeletal muscle cDNA library by using a strategy that involves EST data base searching, PCR and RACE [17].
  • We have taken advantage of our epitope-mapping studies of the E2 components of PDC, BCOADC, and OGDC, and constructed a "designer" hybrid clone, designated as pML-MIT3, that coexpresses the immunodominant epitopes within the three distinct lipoyl domains [25].
  • Whilst in a model in which the regulation mechanism plays a critical role, e.g. donor-specific transfusion plus MR1-induced allograft tolerance, a deletional mechanism lowers the threshold for effective Treg action [26].
  • For protracted treatment, we showed that readministration of recombinant adenovirus vectors could be facilitated by transient immunosuppression using a monoclonal antibody against CD40 ligand (MR1) [27].


  1. Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds. Chen, D.H., Matsushita, M., Rainier, S., Meaney, B., Tisch, L., Feleke, A., Wolff, J., Lipe, H., Fink, J., Bird, T.D., Raskind, W.H. Arch. Neurol. (2005) [Pubmed]
  2. Secondary paroxysmal dyskinesias. Blakeley, J., Jankovic, J. Mov. Disord. (2002) [Pubmed]
  3. Moyamoya-induced paroxysmal dyskinesia. Gonzalez-Alegre, P., Ammache, Z., Davis, P.H., Rodnitzky, R.L. Mov. Disord. (2003) [Pubmed]
  4. Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q. Fink, J.K., Rainer, S., Wilkowski, J., Jones, S.M., Kume, A., Hedera, P., Albin, R., Mathay, J., Girbach, L., Varvil, T., Otterud, B., Leppert, M. Am. J. Hum. Genet. (1996) [Pubmed]
  5. Age-dependent emergence and progression of a tauopathy in transgenic mice overexpressing the shortest human tau isoform. Ishihara, T., Hong, M., Zhang, B., Nakagawa, Y., Lee, M.K., Trojanowski, J.Q., Lee, V.M. Neuron (1999) [Pubmed]
  6. Mutational analysis of the anion exchanger 3 gene in familial paroxysmal dystonic choreoathetosis linked to chromosome 2q. Matsuo, H., Kamakura, K., Matsushita, S., Ohmori, T., Okano, M., Tadano, Y., Tsuji, S., Higuchi, S. Am. J. Med. Genet. (1999) [Pubmed]
  7. Invariant V(alpha)19i T cells regulate autoimmune inflammation. Croxford, J.L., Miyake, S., Huang, Y.Y., Shimamura, M., Yamamura, T. Nat. Immunol. (2006) [Pubmed]
  8. A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q. Fouad, G.T., Servidei, S., Durcan, S., Bertini, E., Ptácek, L.J. Am. J. Hum. Genet. (1996) [Pubmed]
  9. Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation. Stefanova, E., Djarmati, A., Momcilovi??, D., Dragasevi??, N., Svetel, M., Klein, C., Kosti??, V.S. Mov. Disord. (2006) [Pubmed]
  10. Crystal structures at atomic resolution reveal the novel concept of "electron-harvesting" as a role for the small tetraheme cytochrome c. Leys, D., Meyer, T.E., Tsapin, A.S., Nealson, K.H., Cusanovich, M.A., Van Beeumen, J.J. J. Biol. Chem. (2002) [Pubmed]
  11. Glutamate leakage from a compartmentalized intracellular metabolic pool and activation of the lipoxygenase pathway mediate oxidative astrocyte death by reversed glutamate transport. Re, D.B., Nafia, I., Melon, C., Shimamoto, K., Goff, L.K., Had-Aissouni, L. Glia (2006) [Pubmed]
  12. Growth of iron(III)-reducing bacteria on clay minerals as the sole electron acceptor and comparison of growth yields on a variety of oxidized iron forms. Kostka, J.E., Dalton, D.D., Skelton, H., Dollhopf, S., Stucki, J.W. Appl. Environ. Microbiol. (2002) [Pubmed]
  13. Apoptosis and proliferation in thyroid carcinoma: correlation with bcl-2 and p53 protein expression. Basolo, F., Pollina, L., Fontanini, G., Fiore, L., Pacini, F., Baldanzi, A. Br. J. Cancer (1997) [Pubmed]
  14. The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway. Lee, H.Y., Xu, Y., Huang, Y., Ahn, A.H., Auburger, G.W., Pandolfo, M., Kwiecinski, H., Grimes, D.A., Lang, A.E., Nielsen, J.E., Averyanov, Y., Servidei, S., Friedman, A., Van Bogaert, P., Abramowicz, M.J., Bruno, M.K., Sorensen, B.F., Tang, L., Fu, Y.H., Ptácek, L.J. Hum. Mol. Genet. (2004) [Pubmed]
  15. A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study. Münchau, A., Valente, E.M., Shahidi, G.A., Eunson, L.H., Hanna, M.G., Quinn, N.P., Schapira, A.H., Wood, N.W., Bhatia, K.P. J. Neurol. Neurosurg. Psychiatr. (2000) [Pubmed]
  16. Chronic thalamic stimulation for treatment of dystonic paroxysmal nonkinesigenic dyskinesia. Loher, T.J., Krauss, J.K., Burgunder, J.M., Taub, E., Siegfried, J. Neurology (2001) [Pubmed]
  17. Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle. Li, T.B., Liu, X.H., Feng, S., Hu, Y., Yang, W.X., Han, Y., Wang, Y.G., Gong, L.M. Acta Biochim. Biophys. Sin. (Shanghai) (2004) [Pubmed]
  18. Accumulation of Valpha7.2-Jalpha33 invariant T cells in human autoimmune inflammatory lesions in the nervous system. Illés, Z., Shimamura, M., Newcombe, J., Oka, N., Yamamura, T. Int. Immunol. (2004) [Pubmed]
  19. Paroxysmal dystonic choreoathetosis. Genetic linkage studies in a British family. Jarman, P.R., Davis, M.B., Hodgson, S.V., Marsden, C.D., Wood, N.W. Brain (1997) [Pubmed]
  20. Synthesis and properties of DNA-PNA chimeric oligomers. Finn, P.J., Gibson, N.J., Fallon, R., Hamilton, A., Brown, T. Nucleic Acids Res. (1996) [Pubmed]
  21. Paroxysmal dystonic choreoathetosis linked to chromosome 2q: clinical analysis and proposed pathophysiology. Fink, J.K., Hedera, P., Mathay, J.G., Albin, R.L. Neurology (1997) [Pubmed]
  22. Cooperation of the Conserved Aspartate 439 and Bound Amino Acid Substrate Is Important for High-Affinity Na+ Binding to the Glutamate Transporter EAAC1. Tao, Z., Grewer, C. J. Gen. Physiol. (2007) [Pubmed]
  23. Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia. Spacey, S.D., Adams, P.J., Lam, P.C., Materek, L.A., Stoessl, A.J., Snutch, T.P., Hsiung, G.Y. Neurology (2006) [Pubmed]
  24. MR-1 modulates proliferation and migration of human hepatoma HepG2 cells through myosin light chains-2 (MLC2)/focal adhesion kinase (FAK)/Akt signaling pathway. Ren, K., Jin, H., Bian, C., He, H., Liu, X., Zhang, S., Wang, Y., Shao, R.G. J. Biol. Chem. (2008) [Pubmed]
  25. Use of a designer triple expression hybrid clone for three different lipoyl domain for the detection of antimitochondrial autoantibodies. Moteki, S., Leung, P.S., Coppel, R.L., Dickson, E.R., Kaplan, M.M., Munoz, S., Gershwin, M.E. Hepatology (1996) [Pubmed]
  26. The balance of deletion and regulation in allograft tolerance. Zheng, X.X., Sanchez-Fueyo, A., Domenig, C., Strom, T.B. Immunol. Rev. (2003) [Pubmed]
  27. Correction of enzymatic and lysosomal storage defects in Fabry mice by adenovirus-mediated gene transfer. Ziegler, R.J., Yew, N.S., Li, C., Cherry, M., Berthelette, P., Romanczuk, H., Ioannou, Y.A., Zeidner, K.M., Desnick, R.J., Cheng, S.H. Hum. Gene Ther. (1999) [Pubmed]
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