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Frequency of MTHFR GENE C677T Polymorphism for Non-Syndromic Autism Spectrum Disorder Patients

1Faculty of Medicine Diponegoro University, Indonesia

2Faculty of Medicine Padjadjaran University, Indonesia

3Faculty of Medicine Diponegoro University, Indonesia

Received: 16 Mar 2015; Published: 31 Dec 2015.
Open Access Copyright (c) 2015 Journal of Biomedicine and Translational Research

Citation Format:
Background: The folate metabolism is a pathway that may involve in the non-syndromic Autism Spectrum Disorder (ASD). Methylenetetrahydrofolate reductase enzyme has a key role in folate metabolism. The C677T polymorphism of MTHFR gene could reduce the effectiveness of the enzyme.
Objectives: To evaluate the frequency of MTHFR geneC677T polymorphism for non-syndromic ASD patients.
Method: Thirty-four DNA samples were taken from each group. PCR mixture was consisted of 1µL DNA, 2.5µL PCR buffer, 0.5µL dNTP, 1.5µL MgCL2, 0.125µLTaqenzyme, 0.5µLofforwardandreverseprimerandaquabidesttoreach a volume of 25 µL. The PCR profiles were initiation 95ºC for 5 min, denaturation 94ºC for 1min, annealing 55ºCfor 45 seconds, and elongation 72ºC for30 seconds. The cycles were done in 35 times an dfinal elongation was at 72ºC for 5min. The PCR product was 198bp, and then digested by the Hinfl enzyme for 16hours at 37°C, and visualized using2%agarosegeland then electrophoresed for 30 minutes at 100 volts.
Result: Non-syndromic ASD samples showed none had homozygote mutant type (677TT), 3 (8.8%) samples had heterozygote (677CT)and 31 (91.2%) samples had wild type (677CC). Meanwhile, normal control showed only 1 (2.9%)sample had homozygote mutant type(677TT), 9 (26.5%) samples had heterozygote (677CT)and 24 (70.6%) samples had  wild type (677CC).
Conclusion: The frequency of MTHFR geneC677T polymorphism in patients with non-syndromic ASD and controls are not significantly different.

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Keywords: ASD; MTHFR C677T; polymorphism

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  1. Pardo CA, Eberhart CG. The neurobiology of autism.Brain Pathol 2007;17(434–447)
  2. Bailey A, Le Couteur A, Gottesman I. Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 1995;25:63–77
  3. Rosenblatt DS. Inherited disorders of folate transport and metabolism. In: Scriver CR, Beaudet AL, Sly S, Valle D,eds. The Metabolic and Molecular Bases of Inherited Disease. Seventh ed. New-York: McGraw- Hill. 1995:3111–3128
  4. Das SK, Kunkel TA, Loeb LA. Effects of altered nucleotide concentrations on the fidelity of DNA
  5. replication. Basic Life Sci 1985;31:117–26
  6. Selhub J, Rosenberg IH. Folic acid. In: Ziegler EE, Filer LJ Jr, eds. Present knowledge in nutrition. 7th ed. Washington, DC: International Life Sciences Institute Press, 1996:206–19
  7. Barbato JC, Catanescu O, Murray K, DiBello PM, Jacobsen DW. Targeting of metallothioneine by L- homocysteine: a novel mechanism for disruption of zinc and redox homeostasis. Arterioscler ThrombVascBiol. 2007;27:49–54
  8. Main PA, Angley MT, Thomas P, O'Doherty CE, Fenech M. Folate and methionine metabolism in autism: a systematic review. Am J Clin Nutr. 2010;91(6):1598-620
  9. Chou YF, Yu C, Huan RS. Changes in mitochondrial DNA deletion, content, and biogenesis in folate- deficient tissues of young rats depend on mitochondrial folate and oxidative DNA injuries. J Nutr 2007;137:
  10. –42
  11. Chou YF, Huang RS. Mitochondrial DNA deletions of blood lymphocytes as genetic markers of low folate- related mitochondrial genotoxicity in peripheral tissues. Eur J Nutr 2009;48:429–36
  12. Boris M, Goldblatt A, Galanko J, James J. Association of MTHFR Gene Variants with Autism. J Am Physics and Surgeons 2004;9(4)
  13. Chango A, Boisson F, Barbé F, Quilliot D, Droesch S et al. The effect of 677CT and 1298AC mutations on plasma homocysteine and 5,10- methylenetetrahydrofolate reductase activity in healthy subjects. Br J Nutr2000;83(6):593-596
  14. Leclerc D, Sibani S, and Rozen R. Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR) and Overview of Mutations/Polymorphisms. 2000-2011, Landes Bioscience and Springer Science
  15. NICHD - The Eunice Kennedy Shriver National Institute of Child Health and Human Development Official Home Page; Dicitasi pada 24 September 2012 dari:
  16. Gokcen C, Kocak N, Pekgor A
  17. Methylenetetrahydrofolate reductase gene polymorphisms in children with attention deficit hyperactivity disorder. Int J Med Sci. 2011;8(7):523-8
  18. Abbate R, Sardi I, Pepe G, Marcucci R, Brunelli T, Prisco D, et al. The high prevalence of thermolabile 5-10 methylenetetrahydrofolate reductase (MTHFR) in Italians is not associated to an increased risk for coronary artery disease (CAD). Thromb Haemost. 1998;79(4):727-30
  19. Brunelli T, Bagnoli S, Giusti B, Nacmias B, Pepe G, Sorbi S, Abbate R. The C677T methylenetetrahydrofolate reductase mutation is not associated with Alzheimer's disease. Neurosci Lett. 2001;315(1-2):103-5
  20. Kostulas K, Crisby M, Huang WX, Lannfelt L, Hagenfeldt L, Eggertsen G, et al. A methylenetetrahydrofolate reductase gene polymorphism in ischaemic stroke and in carotid artery stenosis. Eur J Clin Invest. 1998;28(4):285-9
  21. del Río Garcia C, Torres-Sánchez L, Chen J, Schnaas L, Hernández C, et al. Maternal MTHFR 677C>T genotype and dietary intake of folate and vitamin B(12): their impact on child neurodevelopment. Nutr Neurosci. 2009;12:13–20

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