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MTHFR: Gene Therapy

“Genes cock the gun, environment pulls the trigger”  

“Genes are a suggestion, not destiny.”


Since the Human Genome Project has identified genetic risk factors (“SNPs”) for many diseases, public interest in genetics has blossomed.  Patients want to know their risks, and what can be done to reduce them;  biochemists have figured out many ways to reduce risk. Genes produce enzymes or proteins which run the body.  Changes in the structure of a gene cause changes in the structure of the enzyme it produces;  these changes interfere with the ability of the enzyme to do its job, for better or for worse.   We cannot correct the misshapen gene (so far), but we can often change its expression, or bring backup genes into play, improving performance.


We do genetic testing because everybody is different.  Not everyone responds to the same regimen.  We tailor our treatments based on the results of testing.


There has been a lot of research on genetic abnormalities (SNPs) and on means of making them work better.  We focus on the best known:


MTHFR:   This is a large enzyme which is involved in processing B vitamins and methyl groups.   (Methyl groups are small carbon and hydrogen clumps).  There are several ways this can be messed up genetically, each having its own negative effect.   These abnormalities interfere with energy production, DNA repair and the synthesis of various important structural proteins, but their impacts can be easily corrected with specific supplements.


CYTOCHROMES (CYPs, e.g., CYP 1A1, 1B1, 2C9, etc)  These are involved with detoxification, putting a positive charge on fatty chemicals to make it possible to hook on other substances which will make them water soluble so the urine and bile can clear them from the body.   Each abnormality has its own significance and its specific treatment.


COMT is an enzyme which clears stimulant neurotransmitters.  Abnormalities cause the stimulants to hang around, influencing mood, blood pressure and other important functions.   They respond easily to treatment.


GSTM1/GSTP1:  these are hugely important in detoxifying metals, car and diesel exhaust, solvents, herbicides, pesticides and other chemicals.  It is possible, with specific supplements, to improve function of this family of enzymes, making the liver better at its job.


SOD2:  an antioxidant enzyme which has an important role to play in reducing oxidative stress, which is a condition that makes many things worse.  Also treatable.

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