Folate and mthfr
If you tested your DNA with a personal genomics service like 23andMe, AncestryDNA, FamilyTreeDNA, MyHeritage or another testing company, you can learn more about your risk factors for hundreds of diseases. By clicking the button above ⬆️, you can upload your raw DNA data file and receive a personalized 250-page health report with research links that is the most comprehensive.
MTHFR is an enzyme crucial for converting folic acid into an active form known as L-methylfolate, which the body can utilize. L-methylfolate plays a significant role in synthesizing neurotransmitters like serotonin, dopamine, and norepinephrine, pivotal for mood regulation.
Certain individuals possess a mutation in the MTHFR gene, impairing their capacity to produce L-methylfolate. The TenDNA health report indicates whether an individual carries genetic variations in MTHFR. This information could be valuable to healthcare providers considering folate supplementation as a treatment approach for depression. The report assesses the presence of genetic variation in MTHFR through the evaluation of the C677T polymorphism. Possessing two copies of the MTHFR gene mutation might increase the likelihood of certain health conditions, although further research is warranted to confirm this correlation. You might be unaware of the mutation unless you undergo genetic testing or experience a health concern.
Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Vitamin B9 (folic acid) and see a list of existing studies.
SNP polymorphisms related to the topic Vitamin B9 (folic acid):
| rs1051266 | The protein encoded by the gene transports folic acid into the cell and thus plays a role in the intracellular regulation of folate concentration. In this genotype, folate absorption is worse. Folic acid requirement is higher. Alcohol consumption is more critical for the risk of vitamin B9 deficiency. |
| rs4973216 | The breakage results in impaired ability of the protein to transport folate and thiamine into cells, resulting in reduced absorption of vitamin B1 from food. Thiamine-reactive encephalopathy, characterised by seizures responding to high doses of thiamine, may develop. |
| rs1801131 | Reduces the formation of the active form of folic acid, which is necessary for the remethylation of homocysteine and other DNA molecules. Administration of the active form of folic acid (5-MTHF or L-methyltetrahydrofolate) can significantly improve risk scores for the effects of mutations. Also a factor that moderately increases the need for vitamin B2. |
| rs2236225 | Possible increased risk of fetal birth defects. A 1.5-fold higher risk for Caucasian mothers to give birth to children with DNT (neural tube defect). The association in children with this mutation with an increased risk of heart defects is greater if their mother did not get enough folic acid during pregnancy. The risk is reduced with adequate levels of folic acid and vitamin B6. |
| rs1979277 | Polymorphism of enzymes that metabolise folic acid.It is required to obtain sufficient vitamin B6 for optimal gene activity. |
| rs2287780 | Polymorphism in folic acid pathway genes causing B12 deficiency and increased homocysteine. |
| rs1801394 | Polymorphism can lead to elevated homocysteine levels independent of folic acid, vitamin B12 or B6 levels. It is a risk factor for neural tube defects and Down syndrome in the setting of higher homocysteine levels. |
| rs1805087 | Moderate risk factor for hyperhomocysteinaemia. A factor that increases the body's need for folic acid and vitamin B12. |
| rs10064631 | Methionine synthase deficiency, impairing the metabolism of folic acid B9 and cobalamin B12. |
| rs651933 | May mean that folic acid cannot be transported into cells, and may indicate a need for more folic acid |
| rs7925545 | May mean that folic acid cannot be transported into cells, and may indicate a need for more folic acid |
| rs11754661 | Genetic alteration of the folate pathway affecting genomic methylation content. |
| rs17349743 | Gene responsible for folate pathway abnormalities, increases likelihood of late-onset Alzheimer's disease. |
| rs2295639 | Gene responsible for folate pathway abnormalities, increases likelihood of late-onset Alzheimer's disease. |
| rs162036 | Disorders of intracellular metabolism of cobalamin. Positive effect on the efficacy of folic acid therapy in patients with hyperhomocysteinaemia. |
| rs144637717 | Deficiency of cerebral transport of folic acid. |
| rs12512471 | Breakdown can cause tetrahydrobiopterin (BH4) deficiency. Treatment for tetrahydrobiopterin problems usually involves some combination of supplementation with L-DOPA, 5-HTP, B4 and folic acid. |
| rs1801133 | A gene fragment known as MTHFR C677T, which encodes an enzyme involved in folic acid metabolism. A break in this gene fragment results in high levels of homocysteine, low levels of B12 and folic acid. If your tests show high homocysteine levels, your doctor will likely advise you on an appropriate diet and supplementation regime. Taking varieties of the active form of B9 methylfolate (5-MTHF or L-methyltetrahydrofolate), the active form of vitamin B12, methylcobalamin, is recommended to reduce your risks. |
| rs326124 | |
| rs744731 | |
| rs10923895 | |
| rs6495446 | |
| rs942835 | |
| rs1076991 | |
| rs1031326 | |
| rs1532268 | |
| rs8011839 | |
| rs3828090 | |
| rs8004018 | |
| rs543703 | |
| rs6495449 | |
| rs10604 | |
| rs10498514 | |
| rs2281617 | |
About The Author
Li Dali
Li Dali, a National Foundation for Outstanding Youth Fund recipient, is a researcher at the School of Life Sciences in East China Normal University. He earned his PhD in genetics from Hunan Normal University in 2007 and conducted collaborative research at Texas A&M University during his doctoral studies. Li Dali and his team have optimized and innovated gene editing technology, leading to the establishment of a world-class system for constructing gene editing disease models. Many individuals carry MTHFR mutations without being aware of their MTHFR status, while only a... Magnesium stands out as one of the most vital nutrients for overall health, facilitating over 300... Zinc finger proteins constitute the most extensive transcription factor family within the human...
