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C 677 T MTHFR and its treatment

This article discusses the C677T MTHFR gene variant, its impact on health, and potential complications. It also provides information on treatment options and specific food sources to support MTHFR function.

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C 677 T MTHFR and its treatment

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  1. C677T MTHFR and its treatment Siamak Tabibzadeh MD May 14 2016 President, Professor Frontiers in Bioscience Research Institute in Aging and Cancer Irvine, California

  2. MTHFR chromosomal loaction MTHFR is encoded by the MTHFR gene on chromosome 1 (location p36.3)

  3. MTHFR variants MTHFR gene is present in several variants in normal people and some variants are associated with some diseases

  4. C C T T C T MTHFR variants The nucleotide 677 of the MTHFR gene is either C or T Position 677 HomozygousCC HeterozygousCT HomozygousTT C leads to production of an enzyme with alanine222 T leads to production of an enzyme with valine222 Thermolabile, Reduced activity

  5. C677T MTHFR The valine variety of MTHFR is thermolabile and has reduced activity. For this reason, those who are homozygous have least enzyme activityNormal DNANormal Protein C677 Enzyme Alanine222Variant DNAVariant ProteinT677 Enzyme Valine222Thermolabile, Reduced activity

  6. C677T MTHFR rates White %30-55 % 40-50 % 4-25Black % 78 % 20 % 2Asian % 30-60 % 35-50 % 3-20

  7. C677T MTHFR Homozygous for normal allele is the common genotypeCC10% of American population are heterozygous for variant Allele CTEnzyme activity reduced to 56%A smaller number are homozygous for variant Allele TTEnzyme activity reduced to 18-22%

  8. MTHFR function 5,10 MTHF converts dUMP to dTMP which is required for de novo thymidine synthesis

  9. MTHFR function 5,10-methylenetetrahydrofolate, can be converted to 10-formyl-tetrahydrofolate (10-formyl-THF), which is involved in the metabolism of folate and the synthesis of purines and pyrimidines

  10. MTHFR function MTHFR catalyzes the conversion of 5,10-methylenetetrahydrofolate (MTHF) to 5-methyltetrahydrofolate5-methyltetrahydrofolate acts as a co-substrate for methylation of homocysteine to methionine

  11. MTHFR chromosomal loaction ·Folic acid is a B vitamin (vitamin M, B9, Bc, pteroyl-L-glutamic acid, and pteroyl-L-glutamate) · The name Folic acid is derived from the latin word, folium, meaning lefty food ·Folic acid is not produced by the body and should be supplied from food. ·Folic acid is modified to perform multiple functions in the body. ·Folic acid is used for methylation, and synthesis of purines and pyrimidines which are required for DNA synthesis and cell division

  12. MTHFR function 5-methyltetrahydrofolate acts as a co-substrate for methylation of homocysteine to methionine

  13. MTHFR function Methionine is activated to AdoMet (S-adenosylmethionine), which serves as a methyl donor to nucleic acids, lipids, proteins, and neurotransmitters

  14. Role of methylation · Protecting DNA and RNA from damage· Protecting cell membranes by building phosphatidylcholine· Protection against toxins

  15. Possible complications of C677T MTHFR Blood· Anemia, Abnormal CBCEndocrine system· Diabetes

  16. Possible complications of C677T MTHFR Cancer· BreastEye· Macular degenerationGI tract · Irritable bowel syndrome, gastric problems

  17. Possible complications of C677T MTHFR Cardiovascular system· High Cholesterol, low HDL, Blood vessel disease, atherosclerosis, cardiovascular disease, transient ischmeic attachs, pulmonary embolism Neuromuscular system· Alzheimer's disease, Multiple Sclerosis, Peripheral neuropathy, Chronic Muscle and Nerve Pain, Poor Concentration, Unexplained Neurologic Disease & Problems, Depression & anxiety, Schizophrenia, Bipolar disorder, Fibromyalgia, Chronic Fatigue Syndrome, Parkinson's disease, Fatigue , Insomnia, Light-headedness, Forgetfulness, Migraine

  18. Possible complications of C677T MTHFR Reproductive system· Male & female infertility , Miscarriage, Congenital birth defects, Down's syndrome, Spina bifida, AutismRespiratory system· Asthma and COPD, Shortness of Breath/Low Oxygen LevelsOther· Hyperhomocysteinemia, Autoimmune disease, Organ Malfunctions, Chemical Sensitivity, Drug toxicities, Methotrexate Toxicity, Nitrous Oxide Toxicity, Addictions: smoking, drugs, alcohol

  19. Treatment of C677T MTHFR Serum Homocysteine· Measure your serum level of homocysteine and try to reduce it if elevated

  20. Treatment of C677T MTHFR Specific Food Source of Folate100 grams serving· Beans and lentils (~50% RDI)· Raw spinach (49% RDI)· Asparagus (37% RDI)· Romaine (Cos) lettuce (34% RDI)· Broccoli (27% RDI)· Avocado (20% RDI)· Oranges/Mangoes (~10% RDI)· Vegetables · Legumes

  21. Treatment of C677T MTHFR Specific Food Source of Folate· Leafy greens ·Spinach ·Kale ·Swiss chard ·Arugula

  22. Treatment of C677T MTHFR Specific· Vitamin C 1000-5000 mg daily· Active form of 5-MTHF (800 mcg) · Vitamin B6 · Vitamin B12 (1 mg) · Vitamins D (1000 IU/day)· Vitamin E · GSH (reduced glutathione)· Alpha ketoglutarate

  23. Treatment of C677T MTHFR SpecificFood Source of Vitamin B2· Almonds (60% RDA)· Beef and lamb (51% RDA)· Oily fish (34% RDA)· Hard boiled eggs (30% RDA)· Mushrooms (29% RDA)· Spinach (14% RDA)· Natural yoghurt (~14% RDA)

  24. Treatment of C677T MTHFR Specific Food Source of Vitamin B6· Sunflower seeds (67% RDA)· Pistachio nuts (56% RDA)· Oily fish (40-50% RDA)· · Bananas (18% RDA)· Avocados (14% RDA)· Spinach (~12% RDA)

  25. Treatment of C677T MTHFR General· Garlic oil· Fresh garlic · Allicin· Broccoli· Horseradish· Cauliflower· Almond·Curcumin·Fish oil·Probiotics

  26. Treatment of C677T MTHFR GeneralAvoid methionine: Limit your intake of methionine-rich foods such as red meat, chicken, salmon, and dairy productsAvoid chemicals: Avoid mercury amalgams, aluminum exposure in antiperspirants or cookware, heavy metal or other toxic compounds.Avoid certain drugs: Avoid taking folic acid blocking or depleting drugs, such as birth control pills or Methyltrexate

  27. Treatment of C677T MTHFR GeneralAvoid certain drugs: Avoid taking proton pump inhibitors which may block essential Vitamin B12 absorption such as Prilosec or Prevacid or antacids like Tums Avoid certain foods: Avoid eating processed foods, many of which have added synthetic folic acidAvoid processed food: Eat organic whole foods with no added chemicals or preservatives or GMO foods

  28. Treatment of C677T MTHFR GeneralDetoxify your body: Use infrared sauna, epsom salt baths, and regular exercise with sweating.

  29. MTHFR references ReferencesBhargava S, Ali A, Parakh R, Saxena R, Srivastava LM. Higher incidence of C677T polymorphism of the MTHFR gene in North Indian patients with vascular disease. Vascular. 2012 Apr;20(2):88-95. doi: 10.1258/vasc.2011.oa0320. Epub 2012 Feb 28.Botto LD, Yang Q. 5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review. Am J Epidemiol. 2000 May 1;151(9):862-77. Review.Khandanpour N, Willis G, Meyer FJ, Armon MP, Loke YK, Wright AJ, Finglas PM, Jennings BA. Peripheral arterial disease and methylenetetrahydrofolate reductase (MTHFR) C677T mutations: A case-control study and meta-analysis. J Vasc Surg. 2009 Mar;49(3):711-8. doi: 10.1016/j.jvs.2008.10.004. Epub 2009 Jan 21. Review.Kumar A, Kumar P, Prasad M, Sagar R, Yadav AK, Pandit AK, Jali VP, Pathak A. Association of C677T polymorphism in the methylenetetrahydrofolate reductase gene (MTHFR gene) with ischemic stroke: a meta-analysis. Neurol Res. 2015 Jul;37(7):568-77. doi: 10.1179/1743132815Y.0000000008. Epub 2015 Jan 16.Moll S, Varga EA. Homocysteine and MTHFR Mutations. Circulation. 2015 Jul 7;132(1):e6-9. doi: 10.1161/CIRCULATIONAHA.114.013311. Review.Sibani S, Christensen B, O'Ferrall E, Saadi I, Hiou-Tim F, Rosenblatt DS, Rozen R. Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. Hum Mutat. 2000;15(3):280-7.Trabetti E. Homocysteine, MTHFR gene polymorphisms, and cardio-cerebrovascular risk. J Appl Genet. 2008;49(3):267-82. doi: 10.1007/BF03195624. Review.Trimmer EE. Methylenetetrahydrofolate reductase: biochemical characterization and medical significance. Curr Pharm Des. 2013;19(14):2574-93. Review.Urreizti R, Moya-García AA, Pino-Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez-Dueñas B, Pineda M, González V, Artuch R, Baldellou A, Vilarinho L, Fowler B, Ribes A, Sánchez-Jiménez F, Grinberg D, Balcells S. Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency. Clin Genet. 2010 Nov;78(5):441-8. doi: 10.1111/j.1399-0004.2010.01391.x.Xie SZ, Liu ZZ, Yu JH, Liu L, Wang W, Xie DL, Qin JB. Association between the MTHFR C677T polymorphism and risk of cancer: evidence from 446 case-control studies. Tumour Biol. 2015 Nov;36(11):8953-72. doi: 10.1007/s13277-015-3648-z. Epub 2015 Jun 17.Yadav U, Kumar P, Yadav SK, Mishra OP, Rai V. "Polymorphisms in folate metabolism genes as maternal risk factor for neural tube defects: an updated meta-analysis". Metab Brain Dis. 2014 Jul 9. [Epub ahead of print]Yan L, Zhao L, Long Y, Zou P, Ji G, Gu A, Zhao P. Association of the maternal MTHFR C677T polymorphism with susceptibility to neural tube defects in offsprings: evidence from 25 case-control studies. PLoS One. 2012;7(10):e41689. doi: 10.1371/journal.pone.0041689. Epub 2012 Oct 3.Zhang T, Lou J, Zhong R, Wu J, Zou L, Sun Y, Lu X, Liu L, Miao X, Xiong G. Genetic variants in the folate pathway and the risk of neural tube defects: a meta-analysis of the published literature. PLoS One. 2013 Apr 4;8(4):e59570. doi: 10.1371/journal.pone.0059570. Print 2013.

  30. Acknowledgement www.bioscience.org www.bioscience.org/ri

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