MTHFR part 16: Homocysteine part 4

Please note: The content of this post is my own, unless the technical terms is too hard to explain, then the content is copy and pasted. I am not a medical professional and thus the post is my point of view. But the content is science-based and credible. Just because it is a new science, does not necessarily make it quackery. Always consult your doctor first before trying a new treatment.

Do you want to see which genes are involved in influencing Homocysteine? 

MTHFR C677T is the culprit. And if it is homozygous it is the worst.

We all have 2 MTHFR genes, one inherited from each parent. Some people have a genetic mutation in one or both of their MTHFR genes. People with mutations in one MTHFR gene are called “heterozygous” for the MTHFR mutation; if mutations are present in both genes, the person is said to be “homozygous” for the mutation.

The most common MTHFR mutation is called the MTHFR C677T mutation, or the “thermolabile” MTHFR mutation. Another common mutation is called MTHFR A1298C. To have any detrimental effect, mutations must be present in both copies of a person’s MTHFR genes. Having only one mutation, ie, being heterozygous, is, from a medical perspective, irrelevant. Even when 2 MTHFR mutations are present (eg, 2 C677T mutations, or one C677T mutation and one A1298C mutation), not all people will develop high homocysteine levels. Although these mutations do impair the regulation of homocysteine, adequate folate levels essentially “cancel out” this defect.

In an paper published by Dr Joseph Pizzorno, ND, Editor in Chief called “Homocysteine: Friend or Foe“, he list the following:

Genes Directly and Indirectly Involved in Homocysteine Metabolism

Symbol Gene Name Function
MTHFR Methylenetetrahydrofolate reductase Conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate
CBS Cystathionine-β-synthase Condensation of homocysteine and serine to form cystathionine
MTR Methyltetrahydrofolatehomocysteine methyltransferase Remethylation of homocysteine to methionine
MTRR Methionine synthase reductase Reductive regeneration of cob(I)alamin cofactor required for the maintenance of MTR in a functional state
RFC1 Reduced-folate carrier 5-methyltetrahydrofolate internalization in cell
GCP2/FOLH1 Glutamate carboxypeptidase II Polyglutamate converted to monoglutamate folate by action of the enzyme folylpoly-γ-glutamate-carboxypeptidase (FGCPI), an enzyme expressed by GCP2
ENOS Endothelial nitric oxide synthase Conversion of l-arginine to l-citrulline and nitric oxide synthase (NO)
TC2 Transcobalamine II Transport of vitamin B12
SHMT1 Serine hydroxymethyltransferase I Reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylenetetrahydrofolate
TYMS Thymidylate synthase 5,10-methylenetetrahydrofolate and deoxyuridylate to form dihydrofolate and thymidylate
CTH Cystathionine-γ-lyase Hydrolysis of cystathionine to cysteine and α-ketoglutarate
MTHFD Methylenetetrahydrofolate dehydrogenase Conversion of 5,10-methylenetetrahydrofolate to 5,10-methenyltetrahydrofolate
MTHFS Methenyltetrahydrofolate synthetase Conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate
APOE Apolipoproteine E Mediates the binding, internalization, and catabolism of lipoprotein particles
VEGF Vascular endothelial growth factor Growth factor active in angiogenesis, vasculogenesis and endothelial cell growth
PON1 Paraoxonase I Hydrolyzes the toxic organophosphorus. It also mediates an enzymatic protection of LDL against oxidative modification
BHMT Betaine-homocysteine methyltransferase In liver and kidney, it catalyses the conversion of betaine to dimethylglycine (DMG)
MAT1A Methionine adenosyltransferase IA Methionine to SAM by transfer of the adenosyl-moiety of ATP to the sulfur atom of methionine
AHCY S-adenosy-l-homocysteine hydrolase Hydrolysis of S-adenosy-l-homocysteine to adenosine and homocysteine
CBL Cystathionine-β-lyase Conversion of cystathionine to homocysteine
F5 Coagulation factor V Cofactor for the factor Xa-catalyzed activation of prothrombin to the clotting enzyme thrombin
PAI1 Prothrombin activator inhibitor I Inhibition of fibrinolysis by inhibiting the plasminogenactivator and t-PA

We are complex beings, with complex systems.

Alex is currently taking Methyl Care from Metagenic:

Ingredients Amount Per Serving % Daily Value
Serving Size 2 Capsules
Servings Per Container 60
Riboflavin 1.6 mg 94%
Vitamin B6 (as pyridoxine HCl) 25 mg 1,250%
Folate (as calcium L-5-methyltetrahydrofolate) 800 mcg 200%
Vitamin B12 (as methylcobalamin) 1,000 mcg 16,667%
Zinc (as zinc citrate) 1.5 mg 10%
Manganese (as manganese citrate) 0.4 mg 20%
Molybdenum (as molybdenum glycinate) 15 mcg 20%
N-Acetyl-L-Cysteine 600 mg *
Betaine HCl 500 mg *

††As Metafolin®. Metafolin® is a registered trademark of Merck KGaA, Darmstadt Germany.

We need to do a homocysteine soon to see if any progress has been made in supporting his methylation cycle.

For now, this is the end of our MTHFR research, even though there is so much more.

Some of the resources used during my research:

  • https://www.dietvsdisease.org/mthfr-mutation-symptoms-and-diet/
  • https://wellnessmama.com/27148/mthfr-mutation/
  • https://ghr.nlm.nih.gov/gene/MTHFR
  • https://www.mthfrsupport.com.au/what-is-mthfr/
  • https://draxe.com/mthfr-mutation/
  • https://en.wikipedia.org/wiki/Methylenetetrahydrofolate_reductase
  • http://circ.ahajournals.org/content/132/1/e6
  • http://www.dramyyasko.com/our-unique-approach/methylation-cycle/
  • http://stewardinglifewellness.com/blog-1/2015/4/7/mthfr-rundown
  • https://www.drlam.com/
  • https://www.healthline.com/nutrition/folic-acid-vs-folate
  • http://blog.naturalhealthyconcepts.com/2015/05/13/the-difference-between-folate-folinic-acid-and-folic-acid/
  • https://www.sciencedirect.com/science/article/pii/S1059131107001859
  • http://atlasgeneticsoncology.org/Genes/GC_MTHFR.html
  • http://resqua.com/100005927200207/is-there-a-simple-explanation-of-the-methylation-cycle-diagram
  • http://www.lifeextension.com/Magazine/2009/8/Is-Homocysteine-Making-You-Sick/Page-01

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