Please note: The content of this post is my own unless the technical terms are too hard to explain, then the content is copied 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, 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 a paper published by Dr Joseph Pizzorno, ND, Editor in Chief called “Homocysteine: Friend or Foe“, he lists the following:

Genes Directly and Indirectly Involved in Homocysteine Metabolism:

SymbolGeneName Function
MTHFRMethylenetetrahydrofolate reductaseConversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate
CBSCystathionine-β-synthaseCondensation of homocysteine and serine to form cystathionine
MTRMethyltetrahydrofolatehomocysteine methyltransferaseRemethylation of homocysteine to methionine
MTRRMethionine synthase reductaseReductive regeneration of cob(I)alamin cofactor required for the maintenance of MTR in a functional state
RFC1Reduced-folate carrier5-methyltetrahydrofolate internalization in cell
GCP2/FOLH1Glutamate carboxypeptidase IIPolyglutamate is converted to mono glutamate folate by the action of the enzyme folylpoly-γ-glutamate-carboxypeptidase (FGCPI), an enzyme expressed by GCP2
ENOSEndothelial nitric oxide synthaseConversion of l-arginine to l-citrulline and nitric oxide synthase (NO)
TC2Transcobalamine IITransport of vitamin B12
SHMT1Serine hydroxymethyltransferase IReversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylenetetrahydrofolate
TYMSThymidylate synthase5,10-methylenetetrahydrofolate and deoxyuridylate to form dihydrofolate and thymidylate
CTHCystathionine-γ-lyaseHydrolysis of cystathionine to cysteine and α-ketoglutarate
MTHFDMethylenetetrahydrofolate dehydrogenaseConversion of 5,10-methylenetetrahydrofolate to 5,10-methenyltetrahydrofolate
MTHFSMethenyltetrahydrofolate synthetaseIn the liver and kidney, it catalyses the conversion of betaine to dimethylglycine (DMG)
APOEApolipoprotein EMediates the binding, internalization, and catabolism of lipoprotein particles
VEGFVascular endothelial growth factorGrowth factor active in angiogenesis, vasculogenesis and endothelial cell growth
PON1Paraoxonase IHydrolyzes the toxic organophosphorus. It also mediates an enzymatic protection of LDL against oxidative modification
BHMTBetaine-homocysteine methyltransferaseIn liver and kidney, it catalyses the conversion of betaine to dimethylglycine (DMG)
MAT1AMethionine adenosyltransferase IAMethionine to SAM by transfer of the adenosyl-moiety of ATP to the sulfur atom of methionine
AHCYS-adenosy-l-homocysteine hydrolaseHydrolysis of S-adenosy-l-homocysteine to adenosine and homocysteine
CBLCystathionine-β-lyaseConversion of cystathionine to homocysteine
F5Coagulation factor VCofactor for the factor Xa-catalyzed activation of prothrombin to the clotting enzyme thrombin
PAI1Prothrombin activator inhibitor IPolyglutamate is converted to mono glutamate folate by the action of the enzyme folylpoly-γ-glutamate-carboxypeptidase (FGCPI), an enzyme expressed by GCP2

We are complex beings, with complex systems.

Alex is currently taking Methyl Care from Metagenic:

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

We need to do homocysteine soon to see if any progress has been made in supporting his methylation cycle, however, this is a blood test, so it might be a bit difficult as Alex does not like having his blood taken.

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:

By cbadmin