Is there a MTHFR gene mutation that can cause hair loss? There are some people reporting success in getting their hair back after discovering that they have this mutation and taking supplements.
Thanks for the excellent question. The topic of the MTHFR gene is certainly being discussed in many areas of medicine. Before answering your question, I’ll review what is known about the MTHFR gene, what is known about MTHFR mutations, and finally what is known about gene mutations and polymorphisms in hair loss
What is the MTHFR gene?
The MTHFR gene is a stretch of DNA that has all the instuctions for making a protein known as methylenetetrahydrofolate reductase. This protein is actually an enzyme which helps our bodies convert the folate vitamin into a usable form called methylfolate. When the MTHFR gene has mutations or the gene is altered in some way (i.e. a polymorphism), the enzyme might either work just fine, or not work quite as well, or not work at all. Many polymorphisms in the MTHFR gene are associated with a 40-70 % reduction in the enzyme’s ability to function.
What is known about MTHFR gene mutations?
There are many different ways that the MTHFR gene is coded in human. We call these differences “polymorphisms.” When there is only one common way a gene is made, we use the word mutation to refer to anything that is different than the main way. However, when there are so many ways that the gene can be coded in the population, we refer to the various changes as “polymorphisms.” The proper terminology here is really MTHFR gene polymorphisms and so I’ll call these MTHFR changes polymorphisms rather than mutations.
When it comes to the MTHFR, there are two particular polymorphisms that are studied. The MTHFR 677T allele and the MTHFR 1298C allele. Recent studies by Nefic and colleagues suggested that the frequency of the MTHFR 677T allele in the population was approximately 33% and the frequency of MTHFR 1298C allele was around 38%.
How do we test for the MTHFR polymorphism ?
A variety of labs will do this, including some online sources. Individuals should check with their physician for local testing.
What is the main effect of poorly functioning MTHFR enzymes in patients with the MTHFR polymorphisms?
Individuals with hypo functioning enzymes have increased levels of blood homocysteine and reduced levels of B12 and serum folate.
Is there a link between MTHFR gene mutations (i.e. polymorphisms) and human disease ?
To date, there have been approximately 75 different human diseases and conditions that appear to be altered in patients with MTHFR gene polymorphisms. These range from asthma to heart attacks, to blood clots in the lungs to stroke, depression, cancers and neurological disease.
Is there a link between MTHFR gene mutations (ie. polymorphisms) and hair loss?
There have been few studies regarding the relationship between various MTHFR gene polymorphisms and hair loss. In fact, to date there has only been one - and that was a study examining the autoimmune condition known as alopecia areata (rather than genetic hair loss). This study included 136 patients affected by alopecia areata and 130 healthy controls. As in most studies, the researchers looked at the MTHFR gene C677T mutation. There were differences observed between the two groups suggesting that the MTHFR gene mutation might play some type of role in this immune condition. How best to treat alopecia in patients with the MTHFR polymorphism was not discussed as it was not the purpose of the research paper.
We don’t really know how best to treat the hair loss associated with various MTHFR gene polymorphism or if there the MTHFR gene polymorphism really has anything to do with the hair loss. Simply taking folic acid pills might not be the answer. Depending on the specific polymorphism, supplementation with methyl folate and B12 may be important to consider.
There seems to be a link between various MTHFR polymorphisms and several human diseases. I’d like to say there’s a clear link between changes in the MTHFR gene and hair loss and that everyone with hair loss should be tested. That’s just simply not the case. There is a whole lot of extremely poor and anecdotal evidence online about the relationship between MTHFR polymorphisms and hair loss and also how best to treat hair loss if someone does have these polymorphisms. Here are the main summary points and conclusions:
1) The MTHFR gene is coded very differently from person to person. We call these differences ‘polymorphisms.’ Most people who decide to get their MTHFR gene tested will fine that they don’t have the ‘standard’ template. They have slight changes. One must be very careful to interpret these results as most will find they have some type of change (not just a few but most).
2) If one has a MTHFR polymorphism, they may speak to their physician about the appropriateness of ordering B12, homocysteine and folate levels. The levels of these will determine what therapies are appropriate.
3) To date, these is absolutely no good evidence that MTHFR polymorphisms have a clear link to genetic hair loss, telogen effluvium or scarring hair loss (scarring alopecia). This information, may change over time. It’s certainly possible that if levels of folate or B12 are low enough that negative consequences on hair would result. The main point is that for many with MTHFR polymorphisms, the changes are not severe enough for detrimental effects on hair.
4) To date, there has been only 1 very small study examining the relationship of MTHFR polymorphisms to alopecia areata and suggested a possible weak relationship. The study has never been independently repeated.
5) Routine testing of MTHFR status in a person with concerns about hair loss can not be recommended at this time.
6) To date, there is absolutely no good evidence consuming methylfolate or any specific type of folic acid, or B12 or methyl-B12 or B6 in patients with MTHFR polymorphisms provides benefit to those experiencing hair loss. These supplements may be very important in other conditions however, (for example the benefit of B12 or folate supplementation to lower high plasma homocysteine levels). This information as it relates specifically to hair may change over time. One must of course consider the levels of B12 or folate and take these in context with the help of a physician.
More research is needed.
Kalkan G, et al. Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population. Gene. 2013.
Nefic H, et al. The Frequency of the 677C>T and 1298A>C Polymorphisms in the Methylenetetrahydrofolate Reductase (MTHFR) Gene in the Population. Med Arch. 2018.