WATCH: How to interpret your MTHFR report
What is MTHFR?
MTHFR stands for methylenetetrahydrofolate reductase and is produced by the MTHFR gene.
MTHFR enzyme performs the function of adding chemical (methyl) groups to folic acid (Vitamin B9) in order for the body to utilize it efficiently.
This process is also necessary for the process that converts the amino acid homocysteine to another amino acid, methionine.
With your 23andMe raw data, you can learn a lot about your MTHFR gene through the Methylation test.
But, why should you learn about your MTHFR gene status?
All of us have two copies of the MTHFR gene, one from each biological parent. However, the type of MTHFR gene differs from person to person.
To explain this better, let’s take the example of blood groups. All of us have red blood. But you may have an O+ve blood type, while the other person may be A-ve - and these different blood groups have different health implications.
Like how O+ve and A+ve are the most common blood types, the MTHFR gene also has 2 common variants (type): C677T and A1298C, the former being more common than the latter. These are called the MTHFR gene mutation.
About 40% of the American population have the C677T type, which has been associated with up to 80% reduction in the enzyme’s efficiency
Health Implications of MTHFR Gene Mutations
When the MTHFR enzyme levels are reduced, it can lead to various health complications due to homocysteine (harmful amino acid) buildup.
They include:
- High blood pressure
- Heart diseases
- Blood clots
- Psychiatric disorders
- Some types of cancer.
- Neural tube defects in newborns
Once you learn about the type of MTHFR gene you carry, the effects of it can be made better by simple fixes such as dietary changes and folic acid supplements.
What is an MTHFR test?
An MTHFR gene test examines variations in the MTHFR gene.
This test does not need a medical prescription. It can be performed in a major genetic diagnostic lab such as Quest or LabCorp.
The aforementioned mutations (along with other smaller ones) are tested for in the MTHFR gene to provide the MTHFR gene status
More readily, the 23andMe MTHFR status can be learned from your 23andMe raw data. Anyone with 23andMe raw data can upload their DNA raw data to xcode.life to learn about their 23andMe MTHFR status.
So, the MTHFR “test” does not necessarily have to be a test but can be as simple as uploading your 23andMe raw data (if you already have it) and downloading your results.
Which Companies Test For MTHFR Mutations?
There are many service providers and online tools that help you find out about your 23andMe MTHFR status. Some of them are listed below:
- Xcode Life: Almost 40 SNPs related to methylation and MTHFR are reported as part of the Xcode life MTHFR and Methylation report. You can upload raw data from most major ancestry companies such as 23andme, Ancestry DNA, Family Tree DNA (FTDNA), and others (view the complete list here) and learn about your 23andme MTHFR status. The reports come with a detailed set of recommendations that guide you through the dietary changes necessary to mitigate the enzyme deficiency.
- Genetic Genie is a tool that accepts raw data only from 23andMe
- Genetic life hacks blog: It is not a tool but has a lot of information dedicated to methylation and the MTHFR gene that you can use as a reference if you have your raw data and a little knowledge about how SNPs work. However, if you do not have such a background, do not attempt to interpret the information all by yourself.
Steps To Test For MTHFR Gene Mutation
- Download your DNA raw data file from your ancestry test service provider:
23andMe DNA Data Download Guide
AncestryDNA DNA Data Download Guide
Family Tree DNA Data Download Guide - Once you can access your data, head over to www.xcode.life and purchase the MTHFR and Methylation report. You can also buy the Wellness Pack, which includes 5 other reports and has a $50 OFF!
- Fill out the required details and complete your transaction.
- Once this is done, you'll be taken to your account dashboard, where you can upload the downloaded data.
- Within 12-24 hours of the upload, you'll receive the report(s) directly to your email inbox!
How to check my MTHFR and Methylation Test Report for MTHFR Status
The first section of your report will include the 2 main mutations of the MTHFR gene.
This section, "PROMINENT MTHFR SNPS," includes the 2 SNPs:
- rs1801133 - C677T
- rs1801133 - A1298C
The bar graph below will indicate the combined result for these SNPs, which is "MODERATELY REDCUED MTHFR ENZYME ACTIVITY," in this case. This indicates a genetic likelihood of moderately functioning MTHFR enzyme.
Under the "OTHER MTHFR SNPS," we profile other variants that have a mild effect on the MTHFR enzyme activity but are not considered significant individually.
In the example below, for some, the individual carries one or two copies of the risk and all, and for others, they have two copies of the normal allele. This may have a mild effect on the MTHFR enzyme functioning.
With simple dietary modifications or folic acid supplements, you will be able to mitigate the enzyme deficiency.
If you already have your DNA raw data from an ancestry test you may have done, you can easily find out your 23andMe MTHFR status from your DNA raw data with the Methylation report. Otherwise, you may consider an ancestry test for $99 or less, so that you can get your genetic raw data for further analysis. Once you have your raw data, you can upload it to xcode.life for your 23andMe MTHFR Methylation status report.
References
- https://www.ncbi.nlm.nih.gov/books/NBK6561/
- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326479/
- https://pubmed.ncbi.nlm.nih.gov/17433898/
- https://en.wikipedia.org/wiki/Race_and_genetics#Genetic_variation
- https://en.wikipedia.org/wiki/Nucleotide
- https://www.healthline.com/health/homocysteine-levels
