MTHFR is the acronym for Methylenetetrahydrofolate Reductase, an enzyme that allows the liver to properly utilize folic acid (through methylation). If an individual even has one altered copy of the gene for this enzyme, it can impact health. Individuals with two altered copies, whether that is two copies of the same alteration (homozygous) or two copies of different alterations (compound heterozygous), have significantly reduced functioning of the MTHFR enzyme, and will see more health impacts.
Testing for genetic variations is becoming more common for genes such as MTHFR, especially with services like 23andme.com. However there are still insurance coverage issues for these genetic tests, so medical consumers must be aware of this, even when their doctor orders the test for medically relevant reasons.
Here is a list of good articles about the MTHFR gene and the impacts it can have on you or your family’s health. Estimates are that about 50% of the general population has at least one gene alteration for MTHFR. For some ethnic groups, as much as 15% of individuals may be homozygous (that means they have no fully working copy of the gene for the MTHFR enzyme). Decreased functioning of the MTHFR enzyme has been correlated to cardiovascular disease (primarily the C667T mutation), miscarriages, colon cancer, glaucoma, impaired liver detoxification, poor reactions to vaccines, and mental health conditions (A1298C mutation) such as autism, ADD/ADHD, depression, anxiety, bipolar disorder, and schizophrenia. Hence it could lead to significant improvements in health for you and your family to be tested and address any compromised MTHFR enzyme function through methylfolate and active B12 (methylcobalamin &/or adenosylcobalamin) supplementation and diet.
- Psychology Today: https://www.psychologytoday.com/blog/the-integrationist/201409/genetic-mutation-can-affect-mental-physical-health
- Comprehensive overview of MTHFR gene mutations and their relationship to chronic conditions with Dr Ben Lynch: https://www.verywell.com/the-link-between-mthfr-gene-mutations-and-disease-3232709
- Top 5 reasons to treat MTHFR in children: http://blog.naturalpartners.com/top-5-mthfr-treatments-in-children/
- A very good introductory article and diagram, from the vantage point of treating MTHFR in a child with attention/behavior issues: http://www.easytolovebut.com/?p=2782
Testing for MTHFR:
Consider whether testing through 23andme.com (kit available at Target for $29.95, with a follow-on $169 fee when sending it in to 23andme.com) will be the most economical choice. Insurance does not often cover genetic testing, even if ordered by your doctor. You also have to decide whether you want additional genes tested, and whether you are comfortable with the terms and conditions of 23andme.com genetic analysis.
- Testing options to screen for MTHFR: http://mthfr.net/mthfr-test-options-oral-swab-blood-test-or-saliva/2013/06/26/
Analysing Genetic Information:
Once you have your genetic data through a service like 23andme.com, you’ll need to produce reports to review with your doctor and asses your methylation status.
- www.livewello.com ($19.95) Gives an extensive report on 100’s of SNPs. Information about the function of those genes is very basic. Additional reports available.
- www.geneticgenie.org (requested $10 donation). Methylation report used by many doctors.
- www.promethease.com($5) Very comprehensive, interactive report, including statistics and potential pharmacological interactions with your phenotypes.
Information on Treating MTHFR Gene Alterations:
- Great article on determining the best dosage of methyl folate supplementation: http://dramyneuzil.com/the-best-dose-of-methylfolate-for-mthfr-mutants/
- Detailed article on the best forms of B12 to take for MTHFR and other gene mutations: http://mthfrliving.com/health-tips/supplementing-for-mthfr-b12/
- Dr Lynch’s article on active forms of B12 – methylcobalamin and adenosylcobalamin: http://www.seekinghealth.com/blog/b12-methylcobalamin-adenosylcobalamin/
- Protocol for treating C677T MTHFR mutations: http://mthfr.net/mthfr-c677t-mutation-basic-protocol/2012/02/24/
- Good description and case history of treating depression due to MTHFR: http://www.beyondmthfr.com/mthfr-depression-folate-bh4-connection/
- Full description of the biochemical pathways affected by MTHFR mutations: https://www.knowyourgenetics.com/media/pdf/Yasko%20MPA%20Cycle.pdf
Details on Methylfolate therapy side effects:
- Dr Lynch’s list of potential Methylfolate side effects: http://mthfr.net/methylfolate-side-effects/2012/03/01/
- Dr Lynch’s article on preventing Methylfolate side-effects: http://mthfr.net/preventing-methylfolate-side-effects/2014/11/26/
There appear to be three types of responses to methylfolate:
FIRST: A person who can jump on methylfolate and feel absolutely wonderful. The only down side they experience is why didn’t they know about methylfolate before?!
SECOND: A person starts methylfolate has an amazingly incredible week where they are happy, interacting and alert. Then the second week comes and they switch to wanting to hide in a room by themselves or literally throw dishes across the room out of anger. Or they may become bed ridden from muscle aches, intense headaches or joint pain.
THIRD: A person takes a small amount of methylfolate and feels all the methylfolate side effects right out the gate.
[Potential] Methylfolate Side Effects:
- sore muscles
- achy joints
- severe anxiety
Comprehensive Articles on Health Impacts of MTHFR Gene Alterations:
- Overview podcast/transcript about MTHRF genetic alterations & methylation by Dr. Alex Kraft: http://findyourbalancehealth.com/2015/05/understanding-mthfrs-impact-on-your-health-your-kids-with-dr-alex-kraft-food-rant-podcast-5/
- MTHFR and mitral valve damage: http://www.ncbi.nlm.nih.gov/pubmed/26813460
- MTHFR, high homocysteine and cardiovascular risk: http://mthfrliving.com/health-tips/homocysteine-levels-mthfr/
- Good site in Australia – this is a summary if MTHFR impacts on heart health: https://www.mthfrsupport.com.au/mthfr-polymorphisms-and-cardiovascular-disease/
- MTHFR and cancer risk: http://mthfrliving.com/health-conditions/mthfr-cancer/
- MTHFR and miscarriage: http://mthfr.net/recurrent-pregnancy-loss-mthfr/2012/06/07/
- MTHFR and asthma: http://www.ncbi.nlm.nih.gov/pubmed/20456312
- MTHFR T677T and T677T/A1298A mutations and schizophrenia: http://www.sciencedirect.com/science/article/pii/S0169328X03003279
- Summary of research correlations between MTHFR mutations and various medical conditions: http://mthfr.net/mthfr-research/2012/01/27/
- Dr Amy Yasko’s Methylation Pathway Analysis (based on 23andme.com results): https://www.knowyourgenetics.com/
Related Genes That Impact MTHFR Treatment:
- From BeyondMTHFR.com: Anxiety and COMT, MAO and MTHFR genes