Skip to main content
SpringerLink
Log in

Association of poly(ADP-ribose) polymerase-1 polymorphism with Tourette syndrome

  • Original Article
  • Published:
Neurological Sciences Aims and scope Submit manuscript

Abstract

Tourette syndrome (TS) is an etiologically heterogeneous disorder, the pathogenesis of which is incompletely understood. Poly(ADP-ribose) polymerase 1 (PARP1) is involved in regulation of developmental processes and cellular differentiation, in transcription regulation, in DNA repair, and in cell death. However, the relationship between TS and single nucleotide polymorphisms (SNPs) of PARP1 is unknown. Therefore, the aim of this experiment was to test the hypothesis that whether the PARP1 SNP, rs1805404 (c.243C>T, Asp81Asp), had an association with TS. A case–control experiment was designed to test this hypothesis. 123 TS children and 122 normal children were enrolled in this study. Polymerase chain reaction restriction fragment length polymorphism was used for the detection of the PARP1 SNP, rs1805404, in TS patients and normal children. The data showed that there is a significant difference in genotype distributions between these two groups. The CT genotype was a risk factor for TS with an odds ratio of 2.34 for the CT versus TT genotype (95 % CI 1.16–4.74). The data also showed this SNP had an association with TS under recessive model (P = 0.0426), and TT genotype had a protective effect against TS with an odds ratio of 0.50 (95 % CI 0.26–0.98). The findings of this study suggested that variants in the PARP1 gene might play a role in susceptibility to TS.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. O’Rourke JA, Scharf JM, Yu D, Pauls DL (2009) The genetics of Tourette syndrome: a review. J Psychosom Res 67(6):533–545. doi:10.1016/j.jpsychores.2009.06.006

    Article  PubMed  Google Scholar 

  2. Martino D, Dale RC, Gilbert DL, Giovannoni G, Leckman JF (2009) Immunopathogenic mechanisms in Tourette syndrome: a critical review. Mov Disord 24(9):1267–1279. doi:10.1002/mds.22504

    Article  PubMed  Google Scholar 

  3. Conelea CA, Woods DW (2008) The influence of contextual factors on tic expression in Tourette’s syndrome: a review. J Psychosom Res 65(5):487–496. doi:10.1016/j.jpsychores.2008.04.010

    Article  PubMed  Google Scholar 

  4. Corbett BA, Mendoza SP, Baym CL, Bunge SA, Levine S (2008) Examining cortisol rhythmicity and responsivity to stress in children with Tourette syndrome. Psychoneuroendocrinology 33(6):810–820. doi:10.1016/j.psyneuen.2008.03.014

    Article  PubMed  CAS  Google Scholar 

  5. Leckman JF, Bloch MH, Smith ME, Larabi D, Hampson M (2010) Neurobiological substrates of Tourette’s disorder. J Child Adolesc Psychopharmacol 20(4):237–247. doi:10.1089/cap.2009.0118

    Article  PubMed  Google Scholar 

  6. Wittfoth M, Bornmann S, Peschel T, Grosskreutz J, Glahn A, Buddensiek N, Becker H, Dengler R, Muller-Vahl KR (2012) Lateral frontal cortex volume reduction in Tourette syndrome revealed by VBM. BMC Neurosci 13:17. doi:10.1186/1471-2202-13-17

    Article  PubMed  Google Scholar 

  7. Makki MI, Behen M, Bhatt A, Wilson B, Chugani HT (2008) Microstructural abnormalities of striatum and thalamus in children with Tourette syndrome. Mov Disord 23(16):2349–2356. doi:10.1002/mds.22264

    Article  PubMed  Google Scholar 

  8. Peterson BS, Thomas P, Kane MJ, Scahill L, Zhang H, Bronen R, King RA, Leckman JF, Staib L (2003) Basal ganglia volumes in patients with gilles de la Tourette syndrome. Arch Gen Psychiatry 60(4):415–424. doi:10.1001/archpsyc.60.4.415

    Article  PubMed  Google Scholar 

  9. Fahim C, Yoon U, Das S, Lyttelton O, Chen J, Arnaoutelis R, Rouleau G, Sandor P, Frey K, Brandner C, Evans AC (2010) Somatosensory-motor bodily representation cortical thinning in Tourette: effects of tic severity, age and gender. Cortex 46(6):750–760. doi:10.1016/j.cortex.2009.06.008

    Article  PubMed  Google Scholar 

  10. Sowell ER, Kan E, Yoshii J, Thompson PM, Bansal R, Xu D, Toga AW, Peterson BS (2008) Thinning of sensorimotor cortices in children with Tourette syndrome. Nat Neurosci 11(6):637–639. doi:10.1038/nn.2121

    Article  PubMed  CAS  Google Scholar 

  11. Kalanithi PS, Zheng W, Kataoka Y, DiFiglia M, Grantz H, Saper CB, Schwartz ML, Leckman JF, Vaccarino FM (2005) Altered parvalbumin-positive neuron distribution in basal ganglia of individuals with Tourette syndrome. Proc Natl Acad Sci USA 102(37):13307–13312. doi:10.1073/pnas.0502624102

    Article  PubMed  CAS  Google Scholar 

  12. Kataoka Y, Kalanithi PS, Grantz H, Schwartz ML, Saper C, Leckman JF, Vaccarino FM (2010) Decreased number of parvalbumin and cholinergic interneurons in the striatum of individuals with Tourette syndrome. J Comp Neurol 518(3):277–291. doi:10.1002/cne.22206

    Article  PubMed  Google Scholar 

  13. Kraus WL (2008) Transcriptional control by PARP-1: chromatin modulation, enhancer-binding, coregulation, and insulation. Curr Opin Cell Biol 20(3):294–302. doi:10.1016/j.ceb.2008.03.006

    Article  PubMed  CAS  Google Scholar 

  14. Ji Y, Tulin AV (2010) The roles of PARP1 in gene control and cell differentiation. Curr Opin Genet Dev 20(5):512–518. doi:10.1016/j.gde.2010.06.001

    Article  PubMed  CAS  Google Scholar 

  15. Tulin A, Stewart D, Spradling AC (2002) The Drosophila heterochromatic gene encoding poly(ADP-ribose) polymerase (PARP) is required to modulate chromatin structure during development. Genes Dev 16(16):2108–2119. doi:10.1101/gad.1003902

    Article  PubMed  CAS  Google Scholar 

  16. Menissier de Murcia J, Ricoul M, Tartier L, Niedergang C, Huber A, Dantzer F, Schreiber V, Ame JC, Dierich A, LeMeur M, Sabatier L, Chambon P, de Murcia G (2003) Functional interaction between PARP-1 and PARP-2 in chromosome stability and embryonic development in mouse. EMBO J 22(9):2255–2263. doi:10.1093/emboj/cdg206

    Article  PubMed  CAS  Google Scholar 

  17. Ju BG, Solum D, Song EJ, Lee KJ, Rose DW, Glass CK, Rosenfeld MG (2004) Activating the PARP-1 sensor component of the groucho/TLE1 corepressor complex mediates a CaMKinase IIdelta-dependent neurogenic gene activation pathway. Cell 119(6):815–829. doi:10.1016/j.cell.2004.11.017

    Article  PubMed  CAS  Google Scholar 

  18. Visochek L, Steingart RA, Vulih-Shultzman I, Klein R, Priel E, Gozes I, Cohen-Armon M (2005) PolyADP-ribosylation is involved in neurotrophic activity. J Neurosci 25(32):7420–7428. doi:10.1523/JNEUROSCI.0333-05.2005

    Article  PubMed  CAS  Google Scholar 

  19. Lai YS, Chang CW, Pawlik KM, Zhou D, Renfrow MB, Townes TM (2012) SRY (sex determining region Y)-box2 (Sox2)/poly ADP-ribose polymerase 1 (Parp1) complexes regulate pluripotency. Proc Natl Acad Sci USA 109(10):3772–3777. doi:10.1073/pnas.1108595109

    Article  PubMed  CAS  Google Scholar 

  20. Krishnakumar R, Kraus WL (2010) PARP-1 regulates chromatin structure and transcription through a KDM5B-dependent pathway. Mol Cell 39(5):736–749. doi:10.1016/j.molcel.2010.08.014

    Article  PubMed  CAS  Google Scholar 

  21. Olabisi OA, Soto-Nieves N, Nieves E, Yang TT, Yang X, Yu RY, Suk HY, Macian F, Chow CW (2008) Regulation of transcription factor NFAT by ADP-ribosylation. Mol Cell Biol 28(9):2860–2871. doi:10.1128/MCB.01746-07

    Article  PubMed  CAS  Google Scholar 

  22. Zampieri M, Passananti C, Calabrese R, Perilli M, Corbi N, De Cave F, Guastafierro T, Bacalini MG, Reale A, Amicosante G, Calabrese L, Zlatanova J, Caiafa P (2009) Parp1 localizes within the Dnmt1 promoter and protects its unmethylated state by its enzymatic activity. PLoS One 4(3):e4717. doi:10.1371/journal.pone.0004717

    Article  PubMed  Google Scholar 

  23. Petesch SJ, Lis JT (2008) Rapid, transcription-independent loss of nucleosomes over a large chromatin domain at Hsp70 loci. Cell 134(1):74–84. doi:10.1016/j.cell.2008.05.029

    Article  PubMed  CAS  Google Scholar 

  24. Ahmed EA, de Boer P, Philippens ME, Kal HB, de Rooij DG (2010) Parp1-XRCC1 and the repair of DNA double strand breaks in mouse round spermatids. Mutat Res 683(1–2):84–90. doi:10.1016/j.mrfmmm.2009.10.011

    Article  PubMed  CAS  Google Scholar 

  25. Virag L, Salzman AL, Szabo C (1998) Poly(ADP-ribose) synthetase activation mediates mitochondrial injury during oxidant-induced cell death. J Immunol 161(7):3753–3759

    PubMed  CAS  Google Scholar 

  26. Alano CC, Ying W, Swanson RA (2004) Poly(ADP-ribose) polymerase-1-mediated cell death in astrocytes requires NAD+ depletion and mitochondrial permeability transition. J Biol Chem 279(18):18895–18902. doi:10.1074/jbc.M313329200

    Article  PubMed  CAS  Google Scholar 

  27. Komjati K, Mabley JG, Virag L, Southan GJ, Salzman AL, Szabo C (2004) Poly(ADP-ribose) polymerase inhibition protect neurons and the white matter and regulates the translocation of apoptosis-inducing factor in stroke. Int J Mol Med 13(3):373–382

    PubMed  CAS  Google Scholar 

  28. LaPlaca MC, Zhang J, Raghupathi R, Li JH, Smith F, Bareyre FM, Snyder SH, Graham DI, McIntosh TK (2001) Pharmacologic inhibition of poly(ADP-ribose) polymerase is neuroprotective following traumatic brain injury in rats. J Neurotrauma 18(4):369–376. doi:10.1089/089771501750170912

    Article  PubMed  CAS  Google Scholar 

  29. Outeiro TF, Grammatopoulos TN, Altmann S, Amore A, Standaert DG, Hyman BT, Kazantsev AG (2007) Pharmacological inhibition of PARP-1 reduces alpha-synuclein- and MPP + -induced cytotoxicity in Parkinson’s disease in vitro models. Biochem Biophys Res Commun 357(3):596–602. doi:10.1016/j.bbrc.2007.03.163

    Article  PubMed  CAS  Google Scholar 

  30. Taylor LD, Krizman DB, Jankovic J, Hayani A, Steuber PC, Greenberg F, Fenwick RG, Caskey CT (1991) 9p monosomy in a patient with Gilles de la Tourette’s syndrome. Neurology 41(9):1513–1515

    Article  PubMed  CAS  Google Scholar 

  31. Boghosian-Sell L, Comings DE, Overhauser J (1996) Tourette syndrome in a pedigree with a 7;18 translocation: identification of a YAC spanning the translocation breakpoint at 18q22.3. Am J Hum Genet 59(5):999–1005

    PubMed  CAS  Google Scholar 

  32. Lin WY, Lee CC, Liu HP, Chou IC, Sheu JJ, Wan L, Lin YJ, Tsai Y, Tsai FJ (2012) Association of genetic variations in X-ray repair cross-complementing group 1 and Tourette syndrome. J Clin Lab Anal 26(5):321–324. doi:10.1002/jcla.21525

    Article  PubMed  CAS  Google Scholar 

  33. Audebert M, Salles B, Calsou P (2004) Involvement of poly(ADP-ribose) polymerase-1 and XRCC1/DNA ligase III in an alternative route for DNA double-strand breaks rejoining. J Biol Chem 279(53):55117–55126. doi:10.1074/jbc.M404524200

    Article  PubMed  CAS  Google Scholar 

  34. Wang XG, Wang ZQ, Tong WM, Shen Y (2007) PARP1 Val762Ala polymorphism reduces enzymatic activity. Biochem Biophys Res Commun 354(1):122–126. doi:10.1016/j.bbrc.2006.12.162

    Article  PubMed  CAS  Google Scholar 

  35. Wang J, Shete S (2008) A test for genetic association that incorporates information about deviation from Hardy-Weinberg proportions in cases. Am J Hum Genet 83(1):53–63. doi:10.1016/j.ajhg.2008.06.010

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

This work was supported by grants from the National Science Council in Taiwan (NSC 100-2320-B-039-011) and grants from China Medical University (CMU101-S-32). This study is also supported in part by Taiwan Department of Health Clinical Trial and Research Center of Excellence (DOH101-TD-B-111-004, DOH102-TD-B-111-004).

Conflict of interest

The authors declare that they have no conflict of interest.

Author information

Authors and Affiliations

  1. Department of Physical Therapy, Graduate Institute of Rehabilitation Science, China Medical University, Taichung, Taiwan

    Bor-Tsang Wu & Jia-Ye Lee

  2. Graduate Institute of Integrated Medicine, China Medical University, Taichung, Taiwan

    Wei-Yong Lin, I-Ching Chou & Cheng-Chun Lee

  3. Department of Medical Research, China Medical University Hospital, Taichung, Taiwan

    Wei-Yong Lin & Fuu-Jen Tsai

  4. Graduate Institute of Acupuncture Science, China Medical University, Taichung, Taiwan

    Hsin-Ping Liu

  5. Children’s Medical Center, China Medical University Hospital, Taichung, Taiwan

    I-Ching Chou & Fuu-Jen Tsai

  6. School of Medical Science, China Medical University, Taichung, Taiwan

    Cheng-Chun Lee

  7. School of Chinese Medical Science, China Medical University, Taichung, Taiwan

    Yuhsin Tsai & Fuu-Jen Tsai

  8. Department of Biotechnology and Bioinformatics, Asia University, Taichung, Taiwan

    Fuu-Jen Tsai

Authors
  1. Bor-Tsang Wu
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Wei-Yong Lin
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. I-Ching Chou
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Hsin-Ping Liu
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Cheng-Chun Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Yuhsin Tsai
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Jia-Ye Lee
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Fuu-Jen Tsai
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Fuu-Jen Tsai.

Additional information

B.-T. Wu and W.-Y. Lin contributed equally to this work.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Wu, BT., Lin, WY., Chou, IC. et al. Association of poly(ADP-ribose) polymerase-1 polymorphism with Tourette syndrome. Neurol Sci 34, 1911–1916 (2013). https://doi.org/10.1007/s10072-013-1405-x

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-013-1405-x

Keywords

Search

Navigation