Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
December-2017 Volume 14 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
December-2017 Volume 14 Issue 6

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article Open Access

Correlation between TSC1 gene polymorphism and epilepsy

  • Authors:
    • Xiuli Jiang
    • Jiajia Chen
    • Quanjiang Song
    • Weiling Wang
    • Guangyan Zhang
    • Ye Li
  • View Affiliations / Copyright

    Affiliations: Department of Neurology, People's Hospital of Rizhao, Rizhao, Shandong 276800, P.R. China, Clinical Laboratory, People's Hospital of Rizhao, Rizhao, Shandong 276800, P.R. China, Department of Internal Medicine, Women and Chindren's Health Care Hospital of Rizhao, Rizhao, Shandong 276800, P.R. China, Department of Ultrasonography, People's Hospital of Zhangqiu, Jinan, Shandong 250000, P.R. China, Department of Clinical Laboratory, People's Hospital of Zhangqiu, Jinan, Shandong 250000, P.R. China
    Copyright: © Jiang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 6238-6242
    |
    Published online on: October 19, 2017
       https://doi.org/10.3892/etm.2017.5345
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

The correlation between tuberous sclerosis complex 1 (TSC1) gene polymorphism and epilepsy was studied. In total, 38 patients with epilepsy treated in People's Hospital of Rizhao from May 2015 to June 2016 were selected as study subjects, as the observation group, 38 healthy people in the same period were selected as the control group. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was used to study the polymorphism of TSC1 gene in the above study subjects. The mRNA expression of TSC1 gene in the observation group and the control group was measured by fluorescence quantitative PCR, the expression of TSC1 protein in the control and observation group was measured by western blotting and ELISA. The polymorphisms of TSC1 gene in control group and observation group were analyzed by PCR-RFLP. There were three genotypes of TCS1 gene locus 142 in healthy population: CC (79.3%), CA (13.9%) and AA (6.8%), there were also three genotypes at locus 142 in the observation group: CC (21.3%), CA (26.4%) and AA (52.3%), there was significant difference in the genotypes at locus 142 between healthy population and the patients with epilepsy (P<0.05). It was observed by fluorescence quantitative PCR that there was no significant difference in the mRNA expression of TSC1 gene between the control group and the observation group (P>0.05). The expression of TSC1 gene was detected by western blot method. Western blotting showed no significant difference in TSC1 protein expression between the two groups (P>0.05). However, by determining the activity of TSC1 protein in the observation group and the control group by ELISA, it was found that TSC1 activity in healthy human body (8.95±2.41 U/ml) was much lower than that in the patients with epilepsy (29.27±4.06 U/ml), the difference was statistically significant (P<0.05). It was found that locus 142 may be located at the active center of TSC1 enzyme by homology modeling of SWISS-MODEL, the mutation of locus 142 could lead to the change of TSC1 activity. The polymorphism of locus 142 in TSC1 gene is correlated with epilepsy, that is, the increase of CA and AA content in locus 142 leads to the occurrence of epilepsy.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

Figure 5

Figure 6

View References

1 

Faure JB, Marques-Carneiro JE, Akimana G, Cosquer B, Ferrandon A, Herbeaux K, Koning E, Bar-belivien A, Nehlig A and Cassel JC: Attention and executive functions in a rat model of chronic epilepsy. Epilepsia. 55:644–653. 2014. View Article : Google Scholar : PubMed/NCBI

2 

Fernández-Gajardo R, Matamala JM, Carrasco R, Gutiérrez R, Melo R and Rodrigo R: Novel therapeutic strategies for traumatic brain injury: Acute antioxidant reinforcement. CNS Drugs. 28:229–248. 2014. View Article : Google Scholar : PubMed/NCBI

3 

Rowley S and Patel M: Mitochondrial involvement and oxidative stress in temporal lobe epilepsy. Free Radic Biol Med. 62:121–131. 2013. View Article : Google Scholar : PubMed/NCBI

4 

Korczyn AD, Schachter SC, Brodie MJ, Dalal SS, Engel J Jr, Guekht A, Hecimovic H, Jerbi K, Kanner AM, Johannessen Landmark C, et al: Epilepsy, cognition, and neuropsychiatry (Epilepsy, Brain, and Mind, part 2). Epilepsy Behav. 28:283–302. 2013. View Article : Google Scholar : PubMed/NCBI

5 

de Figueiredo SM, Filho SA, Nogueira-Machado JA and Caligiorne RB: The anti-oxidant properties of isothiocyanates: A review. Recent Pat Endocr Metab Immune Drug Discov. 7:213–225. 2013. View Article : Google Scholar : PubMed/NCBI

6 

Kan MC, Wang WP, Yao GD, Li JT, Xie T, Wang W and Ma WQ: Anticonvulsant effect of dexmedetomidine in a rat model of self-sustaining status epilepticus with prolonged amygdala stimulation. Neurosci Lett. 543:17–21. 2013. View Article : Google Scholar : PubMed/NCBI

7 

Howard BA and Lu P: Stromal regulation of embryonic and postnatal mammary epithelial development and differentiation. Semin Cell Dev Biol. 25–26:43–51. 2014. View Article : Google Scholar

8 

Liu X, Ory V, Chapman S, Yuan H, Albanese C, Kallakury B, Timofeeva OA, Nealon C, Dakic A, Simic V, et al: ROCK inhibitor and feeder cells induce the conditional reprogramming of epithelial cells. Am J Pathol. 180:599–607. 2012. View Article : Google Scholar : PubMed/NCBI

9 

Düvel K, Yecies JL, Menon S, Raman P, Lipovsky AI, Souza AL, Triantafellow E, Ma Q, Gorski R, Cleaver S, et al: Activation of a metabolic gene regulatory network downstream of mTOR complex 1. Mol Cell. 39:171–183. 2010. View Article : Google Scholar : PubMed/NCBI

10 

Bissler JJ, Kingswood JC, Radzikowska E, Zonnenberg BA, Frost M, Belousova E, Sauter M, Nonomura N, Brakemeier S, de Vries PJ, et al: Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): A multicentre, randomised, double-blind, placebo-controlled trial. Lancet. 381:817–824. 2013. View Article : Google Scholar : PubMed/NCBI

11 

Liu NK and Xu XM: Neuroprotection and its molecular mechanism following spinal cord injury. Neural Regen Res. 7:2051–2062. 2012.PubMed/NCBI

12 

Colín-González AL, Orozco-Ibarra M, Chánez-Cárdenas ME, Rangel-López E, Santamaría A, Pedraza-Chaverri J, Barrera-Oviedo D and Maldonado PD: Heme oxygenase-1 (HO-1) upregulation delays morphological and oxidative damage induced in an excitotoxic/pro-oxidant model in the rat striatum. Neuroscience. 231:91–101. 2013. View Article : Google Scholar : PubMed/NCBI

13 

Morroni F, Tarozzi A, Sita G, Bolondi C, Moraga Zolezzi JM, Cantelli-Forti G and Hrelia P: Neu-roprotective effect of sulforaphane in 6-hydroxydopamine-lesioned mouse model of Parkinson's disease. Neurotoxicology. 36:63–71. 2013. View Article : Google Scholar : PubMed/NCBI

14 

Zhou H, Wang N, Xu L, Huang HL and Yu CY: Clinical study on anti-epileptic drug with B vitamins for the treatment of epilepsy after stroke. Eur Rev Med Pharmacol Sci. 21:3327–3331. 2017.PubMed/NCBI

15 

Sanchez RM, Ribak CE and Shapiro LA: Synaptic connections of hilar basal dendrites of dentate granule cells in a neonatal hypoxia model of epilepsy. Epilepsia. 53 Suppl 1:98–108. 2012. View Article : Google Scholar : PubMed/NCBI

16 

Vittos O, Toana B, Vittos A and Moldoveanu E: Lipoprotein-associated phospholipase A2 (Lp-PLA2): A review of its role and significance as a cardiovascular biomarker. Biomarkers. 17:289–302. 2012. View Article : Google Scholar : PubMed/NCBI

17 

Zhao T, Li Y, Dai X, Wang J, Qi Y, Wang J and Xu K: Effects of retrograde gene transfer of brain-derived neurotrophic factor in the rostral spinal cord of a compression model in rat. Mol Biol Rep. 39:8045–8051. 2012. View Article : Google Scholar : PubMed/NCBI

18 

Nakano N, Nakai Y, Seo TB, Yamada Y, Ohno T, Yamanaka A, Nagai Y, Fukushima M, Suzuki Y, Nakatani T, et al: Characterization of conditioned medium of cultured bone marrow stromal cells. Neurosci Lett. 483:57–61. 2010. View Article : Google Scholar : PubMed/NCBI

19 

Uriarte G, Paternain L, Milagro FI, Martínez JA and Campion J: Shifting to a control diet after a high-fat, high-sucrose diet intake induces epigenetic changes in retroperitoneal adipocytes of Wistar rats. J Physiol Biochem. 69:601–611. 2013. View Article : Google Scholar : PubMed/NCBI

20 

Lovinsky-Desir S and Miller RL: Epigenetics, asthma, and allergic diseases: A review of the latest advancements. Curr Allergy Asthma Rep. 12:211–220. 2012. View Article : Google Scholar : PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Jiang X, Chen J, Song Q, Wang W, Zhang G and Li Y: Correlation between TSC1 gene polymorphism and epilepsy. Exp Ther Med 14: 6238-6242, 2017.
APA
Jiang, X., Chen, J., Song, Q., Wang, W., Zhang, G., & Li, Y. (2017). Correlation between TSC1 gene polymorphism and epilepsy. Experimental and Therapeutic Medicine, 14, 6238-6242. https://doi.org/10.3892/etm.2017.5345
MLA
Jiang, X., Chen, J., Song, Q., Wang, W., Zhang, G., Li, Y."Correlation between TSC1 gene polymorphism and epilepsy". Experimental and Therapeutic Medicine 14.6 (2017): 6238-6242.
Chicago
Jiang, X., Chen, J., Song, Q., Wang, W., Zhang, G., Li, Y."Correlation between TSC1 gene polymorphism and epilepsy". Experimental and Therapeutic Medicine 14, no. 6 (2017): 6238-6242. https://doi.org/10.3892/etm.2017.5345
Copy and paste a formatted citation
x
Spandidos Publications style
Jiang X, Chen J, Song Q, Wang W, Zhang G and Li Y: Correlation between TSC1 gene polymorphism and epilepsy. Exp Ther Med 14: 6238-6242, 2017.
APA
Jiang, X., Chen, J., Song, Q., Wang, W., Zhang, G., & Li, Y. (2017). Correlation between TSC1 gene polymorphism and epilepsy. Experimental and Therapeutic Medicine, 14, 6238-6242. https://doi.org/10.3892/etm.2017.5345
MLA
Jiang, X., Chen, J., Song, Q., Wang, W., Zhang, G., Li, Y."Correlation between TSC1 gene polymorphism and epilepsy". Experimental and Therapeutic Medicine 14.6 (2017): 6238-6242.
Chicago
Jiang, X., Chen, J., Song, Q., Wang, W., Zhang, G., Li, Y."Correlation between TSC1 gene polymorphism and epilepsy". Experimental and Therapeutic Medicine 14, no. 6 (2017): 6238-6242. https://doi.org/10.3892/etm.2017.5345
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team