Anyone with the bad MTHFR (motherfucker) gene?

[drewcastle]

The MTHFR gene codes for an enzyme known as methylenetetrahydrofolate reductase or MTHFR. This enzyme is very important for the production of DNA and methylation pathways that are essential for all bodily functions [R]. Genetic variations in the MTHFR gene results in reduced activity of the enzyme produced and have been associated with a series of diseases and conditions, including cardiovascular disorders, neurological defects, some forms of cancer, psychiatric disorders, diabetes, and pregnancy complications [R, R2].

Interpreting your MTHFR gene SNPs

The two most important SNPs you should look for are rs1801131 and rs1801133 .
Ofthe two, rs1801133 is more important.

1. First, take a look at your genotype for rs1801133:

MTHFR CC677 (rs1801133) or GG is normal
MTHFR C677T (rs1801133) or AG may reduce MTHFR function by 30% maximum (not so bad)
MTHFR 677TT (rs1801133) or AA may reduce MTHFR function by up to 70% maximum (bad)
So if you see "AA" in your file, this means your MTHFR enzyme activity is more likely not to function as well. AG means it still may not function as well, but the chances are lower. And finally, GG is the normal version and doesn't impact this enzyme.

2. Next, take a look at rs1801131. This SNP has less of an effect on MTHFR function, but can still be useful to look at. For this SNP:

MTHFR AA1298 (rs1801131) or TT is normal
MTHFR A1298C (rs1801131) or GT may slightly reduce MTHFR activity (not so bad)
MTHFR 1298CC (rs1801131) or GG may reduce MTHFR activity more (bad)
For this SNP, GG could be the worst combination, but still doesn't have a large influence overall.

To get a complete picture, look at your genotype for these SNPs together. If you have the "bad" genotype for both, the chances are higher that your MTHFR enzyme will not work as well. The MTHFR 677TT/ rs1801133 AA and MTHFR 1298CC/rs1801131 GG combination can decrease MTHFR function the most.

https://www.selfdecode.com/gene/mthfr/



Association of Vitamin B12 Deficiency with Homozygosity of the TT MTHFR C677T Genotype, Hyperhomocysteinemia, and Endothelial Cell Dysfunction.

RESULTS:
Frequency of the TT MTHFR genotype was 28/100 (28%), compared with 47/313 (15%) in a previously published cohort of individuals with normal B12 levels (P = 0.005). Mean homocysteine level was 21.2 ± 16 μM among TT homozygotes as compared to 12.3 ± 5.6 μM in individuals with the CC or CT genotype (P = 0.008). FMD was abnormal ( 6%) in 9/13 TT individuals with B12 deficiency (69%), and was still abnormal in 7/12 of those tested 6 weeks after B12 and folic treatment (58%).

CONCLUSIONS:
Among individuals with B12 deficiency, the frequency of the TT MTHFR genotype was particularly high. The TT polymorphism was associated with endothelial dysfunction even after 6 weeks of treatment with B12 and folic acid. Based on our findings we suggest that B12 deficiency be tested for MTHFR polymorphism in order to identify potential vascular abnormalities and increased cardiovascular risk.
https://www.ncbi.nlm.nih.gov/pubmed/26137654

I have the 677TT / rs1801133(AA) [the worst], and the AA1298/rs1801131(TT) [normal]

You can search this snps in your raw data.

Many problems have been associated with this gene, ADHD, depression, OCD, schizophrenia, poor memory, cancer, alzheimer, low energy.


Two days ago I bought L-Methylfolate (possible solution), it is too early to make conjectures (besides it is not the only thing that has to be taken to compensate this deficiency), and it can also be suggestion or placebo effect, but I would say that I notice with more energy and concentration.

Does anyone else have the Motherfucker gene?

[drewcastle]

two proofs of the possible solution:


Red blood cell folate concentrations increase more after supplementation with [6S]-5-methyltetrahydrofolate than with folic acid in women of childbearing age.

Abstract
BACKGROUND:
For the primary prevention of neural tube defects (NTDs), public health authorities recommend women of childbearing age to take 400 mug folic acid/d 4 wk before conception and during the first trimester. The biologically active derivate [6S]-5-methyltetrahydrofolate ([6S]-5-MTHF) could be an alternative to folic acid.

OBJECTIVE:
We investigated the effect of supplementation with [6S]-5-MTHF compared with that of folic acid on red blood cell folate concentration, an indicator of folate status.

RESULTS:
The increase in red blood cell folate over time was significantly higher in the group receiving 416 microg [6S]-5-MTHF/d than in the groups receiving 400 microg folic acid/d or 208 microg [6S]-5-MTHF/d (P < 0.001). No plateau was reached in red blood cell folate concentration in the 3 treatment groups during 24 wk of intervention; however, plasma folate plateaued after 12 wk.

CONCLUSIONS:
We showed that administration of [6S]-5-MTHF is more effective than is folic acid supplementation at improving folate status. In addition, the study indicates that the recommended period for preconceptional folic acid supplementation should be extended to >4 wk for maximal prevention of NTDs based on folate concentrations. [6S]-5-MTHF might be an efficient and safe alternative to folic acid.

https://www.ncbi.nlm.nih.gov/pubmed/16825690/



Assessing Effects of l-Methylfolate in Depression Management: Results of a Real-World Patient Experience Trial

Objective: l-Methylfolate has been shown in retrospective and prospective studies to enhance antidepressant response. The aim of this study was to prospectively assess change in depression severity and medication satisfaction in patients prescribed l-methylfolate within a naturalistic setting.


Results: Of 554 patients, 502 reported that l-methylfolate was added to their existing antidepressant and 52 were treated with l-methylfolate alone, without an antidepressant. Enrolled participants reported a mean reduction of 8.5 points (58.2% decrease) in their PHQ-9 score (mean baseline PHQ-9 score = 14.6, mean follow-up PHQ-9 score = 6.1; P = .000); 376 (67.9%) responded to treatment (50% reduction in baseline PHQ-9 score) and 253 (45.7%) achieved remission (follow-up PHQ-9 score < 5) after an average of 95 days of therapy. In addition, patients achieved significant reductions in self-reported impairment in their work/home/social life (P = .000). Medication satisfaction with l-methylfolate (mean satisfaction score = 7.0) was significantly higher than with prior medication (mean satisfaction score = 5.2; P = .000).

Conclusions: Results show that in a naturalistic setting, patients managed with l-methylfolate achieved statistically significant improvements in self-reported depression symptoms and functioning and greater satisfaction with their medication treatment.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3869616/

[drewcastle]

Homocysteine and MTHFR Mutations


Homocysteine is a chemical in the blood. It is formed when the amino acid methionine, which is a building block of the proteins in our food and body, is naturally broken down (ie, metabolized) to be excreted in the urine (Figure). During this breakdown process, homocysteine can be recycled by our body to be reused to build other proteins. For this recycling, we need vitamins B12, B6, and folate. If a person is deficient in vitamin B12, B6, or folate, homocysteine cannot be efficiently recycled and therefore accumulates in the blood. Also, for recycling to be the most efficient, the enzyme methylenetetrahydrofolate reductase (MTHFR) is needed. Inherited mutations in the gene that make the MTHFR enzyme can lead to an enzyme that is not optimally active and, consequently, may lead to elevated homocysteine levels. Mild to moderate homocysteine elevations are common; extremely high homocysteine elevations are uncommon.

https://www.ahajournals.org/doi/full/10.1161/CIRCULATIONAHA.114.013311



More studies about MTHFR:
https://scholar.google.es/scholar?q=mthfr&hl=es&as_sdt=0,5

[Bellbeaking]

is it common in Alabama?

[Kaspias]

rs1801131 GG
rs1801133 GT

[Brás Garcia de Mascarenhas]

rs1801131 G/T
rs1801133 G/G

[Profileid]

rs1801131 G / T
rs1801133 A / G

[Rædwald]

rs1801133 G;G
rs1801131 G;T