Can someone/have you get the MTHFR gene mutation test done?


I found out some very crazy information in the last few days. One of them is that many people who have this “sexual exhaustion” type disease (not caused by finasteride, more caused by over masturbating and have very similar side effects to PFS), many of them or some of them have this MTHFR gene mutation problem. Get this… this gene mutation screws up your methylation cycles (think awor’s research) and many people have to go through these special supplement treatments to try to fix their methylation cycles.

Check this for getting the test done:

I don’t know how much it is or anything, but I was curious if anyone has had it done and could tell me if you have it or not?

I did a search on propeciahelp and one person had it actually:

I think it’s pretty interesting that this one person has it… Pretty much gives us some proven facts to work with… altho others could have tested negative…


That guy seems kind of shady. He’s a naturopath selling vitamins online. I’d get the gene test done, but seek an MD or PHD geneticist to evaluate it.


Wildtype = GG = No mutation

Gene…Position… SNP…Versions…Moonman1’s Genotype
MTHFR…11863057…rs2066470…A or G… AG

Wildtype = TT = No mutation

Gene…Position… SNP…Versions … Moonman1’s Genotype
MTHFR …11854476 …rs1801131 … G or T… GT

===================================================== … PUnc#gid=1


moonman… you seemed to always have the tests man… respect.

so on this test, it said TT means no mutation, so you do you have a mututation on this gene?


Looks like no mutation on any of the MTHFR SNPs.

My methylation labs came back pretty normal as well.

FYI just having a mutation does not automatically mean you will have issues. It just means you have a higher probability of it than other people.


I think there is something important in moonman1’s genotype that we are missing here.

Focusing on rs1801131, the wildtype (or most prevalent) allele for MTFR is a ‘T’ (or A since A is the complementary to the opposite strain of DNA) at site 11854476. The mutation at site 11854476 to ‘G’ (or C given the complement) is the more rare allele (version of the gene).

From the notation in the test result posted of 'GT", it appears moonman1 has a wildtype gene on one chromosome and a mutation on the other chromosome.

I have some thoughts about what this means, but first I just want to make sure my interpretation is correct.


Droit, you are correct. I was reading them wrong. Wildtype means most prevalent among the population, wheras I was assuming it meant risk factor.

So reanalyzing, it looks like I have one risk allele on 2 of the 3 SNPs. However, this does not mean the same as a mutation (if I am correct) and these allee combos are still semi prevalent among the overall population. Regardless, I think the fact that my methylation labs are fine (with exception of slightly lowered folate), I still do not see this as an issue.


MTHFR is an enzyme that processes folic acid into it’s active form (methylfolate - … ost-176935) which again means weak conversion of folate to the active form - methylfolate.

The active form of folate and functional B12 are needed to drive the methylation cycle to recycle glutathione - which is exactly what we are discussing here: viewtopic.php?f=27&t=7178

@moonman1, you’ve posted that your methylation test didn’t reveal anything. What methylation test did you get? Did you get the ‘Methylation Pathways Panel’ from Vitamin Diagnostics?

This test measures all of the folate forms in the folate pathways along with other parts of the the Methylation Cycle pathway. If you took this test, I would have expected to see something low in the active folates (10-Formyl-THF, 5-CH3-THF, 5-Formyl-THF, etc). Here is a description of this full test:


Something else to consider is that this user took Saw Palmetto, not Finasteride.


That’s very relevant information to consider. Thanks Mew for posting.


It was part of a Metametrix Organix test. Have since been on Folinic Acid Drops, B12 drops, and tried out B12 injections. Neither of these have brought any improvements of any sort.

Also my homocysteine shows nothing out of the ordinary.


@moonman1, I think taking Folinic Acid is precisely counter productive. Your genotype says that you are not efficient at converting Folic/Folinic Acid into the active form: methlyfolate.

I say counter productive because people on the boards who take the non-active form of folate (Folic/Folinic Acid) get a ‘paradoxical folate deficiency.’ This is all described somewhat in Dr. Van Konynenburg’s talk (3rd part at around 5 minutes in). … Bweburl%7D

As far as B12, what versions are you taking? cyanocobalamin? The CFS/ME groups take on this is is that cyanocobalamin is again an inactive form and requires conversions.

From what I’ve read, when you’ve been deficient for a long time and then start taking active vitamins, it can cause some 'start up symptoms. One example is hypokalemia (low potassium) - as described here: … eta.15690/). The people on this board supplement with coconut water and bananas.

I also want to note that I’m not sure these tests prove you don’t have methylation cycle issues. Dr. Van Konynenburg tests different things when talking about methylation cycle.

Honestly, I would just say watch the full 3 part lecture that is linked above.



What does any of this means?


It is all very groundbreaking stuff. Most doctors probably would not even know where to start and how to read these tests.

These are all methylation genes. The red are full mutations. The yellow are SNPs with risk allele. The green are normal/good.

My results really don’t mean anything unless we can compare them to other PFSers results and try to find common mutations…


ACE Gene

rs4343 - ACE Del16 (Use this substitute SNP as a very reliable proxy.) (Risk Allele: G) 

This enzymes leads to high levels of angiotensin II which causes an increase in aldosterone. High aldosterone leads to increase potassium loss in the urine and increased sodium retention. Animal studies show a correlation between high angiotensin II with increased anxiety and decreased learning and memory. Decreased potassium can lead to fatigue and decreased energy production as cellular membrane activation, particularly for the brain and peripheral nervous system is dependent upon sodium:potassium balance. Blood pressure regulation as well. Low frustration threshold. Increased anxiety. Worsened by stress. An MAO-A mutation makes this worse. The ACE Del16 mutation may have been removed from Yasko’s current genetic tests.



rs4680 - COMT V158M (Risk Allele: A)
rs4633 - COMT H62H (Risk Allele: T)
rs769224 - COMT P199P (Risk Allele: A) 

This gene helps break down dopamine and norepinephrine. A defect will cause higher dopamine due to slower breakdown. Implicated in ADD/ADHD. More susceptible to dopamine fluctuations, therefore mood wings. People without COMT mutations are generally more even tempered.


VDR Gene

rs1544410 - VDR Bsm (Risk Allele: T)
rs731236 - VDR Taq (Risk Allele: G)
rs10735810 - VDR Fok (Risk Allele: T, 23andMe: A) 

Vitamin D receptor. VDR Fok is involved with Blood sugar regulation. VDR mutations oppose COMT mutations in the regulation of dopamine levels. A VDR mutation means that a person is less sensitive to methyl group supplement levels. (Mood swings.) A VDR mutation can result in behaviors opposite to a COMT mutation. See Dr. Roberts comments at … bnormality


MAO-A Gene

rs6323 - MAOA R297R (Risk Allele: T) 

Slower breakdown of Serotonin. Can lead to high/low cycling of neurotransmitter. Mood swings, aggressive behaviors. ACE deletions will also increase anxiety and lower frustration thresholds. Because this is on the X chromosome, males will have only one allele.


ACAT1 Gene

rs3741049 - ACAT1-02 (Risk Allele: A) 

Plays a major role in ketone body metabolism. Defects cause a 3-ketothiolase deficiency. Yasko believes it will cause an increase in gut bugs (particularly clostridia) as well as elevated fatty acid metabolites.



rs1801133 - MTHFR C677T (Risk Allele: A)
rs1801131 - MTHFR A1298C (Risk Allele: G)
rs2066470 - MTHFR P39P (Risk Allele: A) 

MTHFR mutations are the centerpiece of the work by Yasko, Rawlins and others, and is the most important to understand. An MTHFR mutation can starve the entire methylation cycle, which has some very large health impacts.

The C677T mutation is associated with a general set of problems: elevated homocysteine, increase in heart disease, increased stroke, increased deep vein thrombosis, peripheral neuropathy, placental vascular problems (stillbirth), preeclampsia, neural tube defects, cleft lip.

The A1298C mutation is assoicated with a second set of problems: depression, anxiety, irritable bowel syndrome, fibromyalgia, chronic fatigue, migraines, dementia, nerve pain, chizophrenia, parkinson’s, tetrahydrobiopterin (BH4) problems. Although not addressed by Yasko, if your Promethease report includes Gs223 or Gs224, you may have additional BH4 impairment.

A person who is compound heterozygous (a single C677T mutation and a single A1298C mutation, each on a different strand) will see symptoms from both defects, but the symptoms tend to be more severe. Rawlins also believes that blood clots are more prevalent. As bad as that is, a person with a single mutation on one gene and a double mutation on the other can be worse. A person who is compound homozygous (double mutation on both genes) is also worse.


MTR Gene

rs1805087 - MTR A2576G (Risk Allele: G) 

Helps produce methionine from homocysteine. Likely needs a methylated B12. A mutation here causes increase function and increased methyl group depletion. This can be made worse by MTRR mutations.



rs1801394 - MTRR A66G (Risk Allele: G)
rs10380 - MTRR H595Y (Risk Allele: T)
rs162036 - MTRR L350A (Risk Allele: G)
rs2287780 - MTRR R415T (Risk Allele: T)
rs2303080 - MTRR S257T (Risk Allele: T)
rs1802059 - MTRR A664A (Risk Allele: A) 

Necessary to regenerate Methyl-B12 for use by MTR. Mutation can cause shortage, suggesting a need for more B12.



rs585800 - BHMT-01 (Risk Allele: T)
rs567754 - BHMT-02 (Risk Allele: T)
rs617219 - BHMT-04 (Risk Allele: C)
rs651852 - BHMT-08 (Risk Allele: A, 23andMe: T) 

The product the BHMT gene is central to the ‘short cut’ through the methylation cycle, again helping to convert homocysteine to methionine. The activity of this gene product can be affected by stress, by cortisol levels and may play a role in ADD/ADHD by affecting norepinephrine levels.

Yasko believes that believes BHMT-02 and BHMT-04 play a role in the gut environment. Yasko also believes that BHMT-08 is related to the impact that psychological stress has on a patient’s attention levels.



rs819147 - AHCY-01 (Risk Allele: C)
rs819134 - AHCY-02 (Risk Allele: G)
rs819171 - AHCY-19 (Risk Allele: C) 

Catalyzes the hydrolysis of AdoHcy to adenosine and homocysteine. AdoHcy hydrolysis serves not only to sustain the flux of methionine sulfur toward cysteine, but is believed also to play a critical role in the regulation of biologic methylations.


CBS Gene

rs234706 - CBS C699T (Risk Allele: A)
rs1801181 - CBS A360A (Risk Allele: T, 23andMe: A)
rs2298758 - CBS I278T (Risk Allele: G) 

Limits homocystine into downstream path. People with CBS mutations will need to be careful with sulfur containing supplements. Increased risk for ammonia detoxification issues. Puts a burden on SUOX.



rs??????? - SUOX S370S (Risk Allele: C) 

This gene product helps to detoxify sulfites in the body. Sulfites are a natural byproduct of the methylation cycle and are also ingested from foods. Made worse with CBS and NOS mutations.


NOS Gene

rs1799983 - NOS-3 D298E (Risk Allele: T) 

Helps in the formation of nitric oxide which has a role in ammonia detoxification, oxidative stress, and chemical production. Mutations here are made worse by MTHFR A1298C mutations and CBS mutations. A mutation here is also made worse by a lack of mutations in SUOX.


SHMT1 Gene

rs1979277 - SHMT-1 C1420T (Risk Allele: A) 

Helps to shift the emphasis of the methylation cycle toward the building blocks needed for new DNA synthesis and away from the processing of homocysteine to methionine.


moonman – is there a way to tell from a full on mutation that you have in what way it’s doing something for better or for worse. what i am saying is, and sorry i don’t 100% understand interpreting the results yet, but say you have a problem with the NOS gene, would the result say if it’s creating too much precursor, or too little precursor?

or what i am saying is, is there more than one possibilty in waht is wrong with a mutated gene, where it could be difficult to pinpoint how to fix the problem, or is it pretty straight forward? i mean straight forward as in, if you have a mutated gene, all you need is X amt of whatever supplements and hopefully that will help you?

also moonman, do you beleive that PFS or propecia could mutate the gene themselves, or is this all ready a problem beforehand? (as in, nothing can turn them on or off?) i read something in the past that environment stressors could activate or de activate certain gene processes, so I’m wondering if that is a possibilty or not?



From what I understand, it depends on what exactly that specific gene is encoded to do. For example, as Droit pointed out, the MTHFR gene encodes to create an enzyme. This enzyme breaks down folate into a more active form. So if you have this mutation then there will be an issue with that enzyme and you will not get enough of the active form of folate. You would need to supplement with 5-MHTF. So to answer your question it just depends on the specific function of the mutated gene.

It is possible that Propecia/Saw Palmetto/any other 5ar inhibitor could cause an epigenetical change, but I dont think I personally believe that happened. Will have to wait for Awors research to know for sure.

I think it is more probable that we all have some sort of genetic commonality, maybe a mutation of some specific gene that made us more likely to “break” once 5ar/androgens/neurosteroids were inhibited. I had a phone conference the other week with William Downs who is a dopamine researcher and this was exactly what he said. He believes that we all had similar genetic predispositions and 5ar inhibitors break our system by over-regulating our systems.


Adding to what I wrote above…and hopefully not hijacking the thread, here is a comment from some a very smart guy who knows his shit…

The thing you need to understand is that it is VERY unlikely that Propecia has caused a mutation of the androgen receptor gene through epigenetics. Past-users would notice a SEVERE wasting in muscle mass, down to levels of the average female. Since this does not appear to be a side effect, it is highly unlikely that Propecia has somehow mutated a gene, through methylation or otherwise. It is much more likely that Propecia has somehow “fried” the neurons in the brains response to androgens, which explains the loss of sex drive and “brain fog”. It’s much more likely a neuronal issue than an AR related one.


Very interesting. This would coincide with post SSRI syndrome. It would also verify the many studies of Finasteride’s neuronal brain effects. Any suggestion what to do about it?


ok he did not take fin. Can you tell me how saw palmetto is different from Fin?