MTHFR is commonly referred to as a genetic mutation. It stands for methylenetetrahydrofolate reductase. MTHFR deficiency leads to high levels of homocysteine in the blood and low levels of folate. MTHFR has two variants – C677T and A1298C. Genetic mutation takes place when there is fluctuation in these variants. The best possible solution to detect the imbalance in a gene is to get an MTHFR home test kit.
The most common MTHFR gene mutations involve combinations of two genes (C677T and A1298C) that are passed on from each parent.
Homozygous: It takes place when the same gene is passed on from both parents, meaning both parents passed on either C677T or A1298C.
Heterozygous: This happens when one parent passes a healthy normal gene, but the other parent passes a mutated gene (either C677T or A1298C).
Compound Heterozygous: This severe gene mutation occurred when one parent passed on C677T, and the other parent passed on A1298C.
Before you decide to take the MTHFR test, you must ask these questions:
Which Symptoms Did You Come Across?
Various conditions are found to be associated with MTHFR. They include chronic pain and fatigue, depression, anxiety, schizophrenia, bipolar disorder, colon cancer, acute leukemia, nerve pain, and migraines.
The major ones include recurrent miscarriages in women of child-bearing age and pregnancies with neural tube defects, like spina bifida and anencephaly. If any of the minor symptoms recur at intervals, then you must get an MTHFR home test kit.
Why Should You Get Tested?
Methylation is adversely affected due to MTHFR. This will affect the other aspects of your health as well. MTHFR causes homocysteine to elevate and decrease the folate level. But these are not the only reasons to get tested for MTHFR.
It is better to get tested to detect the possible mutation in genes. The sooner you address the condition, the faster you will be able to prevent the complications.
Should You Get Your Homocysteine Levels Checked Instead?
Homocysteine is not the only suitable option to study the methylation process. Folate and MTHFR are also necessary to study the genetic mutation. For instance, though MTHFR C677T raises homocysteine levels, CBS (Cystathionine Beta Synthase) C699T lowers it.
If you have a homozygous MTHFR mutation and a homozygous CBS mutation, your homocysteine may look normal. Still, your body will not have enough conversion of homocysteine into methionine, and you will experience under-methylation.
What Will be the Treatment Process?
The treatment for MTHFR is not a tiresome medical treatment as such. It could just mean consuming vitamin B supplements. The procedure varies as per the homocysteine in the blood and the attributed levels of MTHFR variants.
The treatment entirely depends on the cause, symptoms like confirmed MTHFR mutation, and vitamin deficiencies in folate and choline. In such cases, your doctor may suggest supplementation to address the deficiencies along with medications or treatments to treat the specific health condition.
Will There be Any Lifelong Health Concerns?
Once you are treated for genetic mutations, there will be no procedures required to minimize the homocysteine levels. The doctors will advise you to make minimal changes in your lifestyle to prevent any future MTHFR concerns. Preventive measures alone can help in controlling genetic mutations.
