Category: Blog

1. MTHFR, Methylenetetrahydrofolate reductase, is an enzyme found in human chromosome 1,located exactly in the short arm. It plays a significant role in folate and homocysteine (amino acid) metabolism. Studies have shown that individuals with MTHFR deficiencies can have hyperhomocysteinemia
   with homocystinuria.
2. Research in the past decades has shown that this enzyme plays a key role in homocysteine metabolism. The deficiency of this enzyme is an inborn error of folate metabolism, which is quite
   rare. Yet, several studies have identified this variant as the most common cause of
   hyperhomocysteinemia and a risk factor for many disorders connected to defective homocysteine
   metabolism.

3.Genetic deficiency of MTHFR is rare, but around 50 cases have already been identified worldwide. Symptoms in such individuals are seizures, developmental delay, neurological impairment, gait dysfunction, and a very high level of homocysteine in urine and plasma. Genetic testing of the gene mutation can be done on a saliva swab and blood sample.

4.Genetic mutations are inherited and acquired from the parents. There are 2 forms of mutations that can occur on the MTHFR gene – C677T and A1298C. If one such variant is present, one is less likely to have health issues but if both variants are present, then the individual is likely to have serious health problems.

5.Health issues associated with people who have two variants of the MTHFR gene are :
Homocystinuria
Alopecia areata
Spina bifida
High blood pressure
Depression or bipolar disorder
certain cancers
Miscarriages

6.MTHFR affects pregnancy: Research has shown a link between MTHFR gene variants related to repeated miscarriages. It is important to test for MTHFR gene mutation in women who have suffered unexplained recurrent miscarriages or delivered babies with neural tube defects. Extra folate supplementation and blood thinning administration can be useful to prevent such miscarriages.

7.Diagnosis of MTHFR variant cases is done by testing blood samples and saliva swabs in individuals with a very high level of homocysteine in urine and plasma and vitamin deficiencies of folate, choline, vitamin B12, B6 and riboflavin. MTHFR mutation variant people may not have health issues and can be treated by preventive measures of supplementation of folate and vitamin B and lifestyle changes like a nutritious balanced diet, sleep, exercise and avoiding smoking.

8.Babies and children born with MTHFR mutation variants may present with symptoms within the first year of birth. Such children may have ADHD (attention deficit hyperactivity disorder), autism, impairment of sleep, mood disorder, hyperhomocysteinemia, vitamin, folate deficiency, pediatric stroke, spina bifida and Down’s syndrome.

9.Having gene variants is common in the human population. This particular MTHFR variant gene is common in some ethnicities like in Hispanic individuals. Hispanic races have commonly the MTHFR C677T variant. People with such variants are able to process all types of folate. Research shows that 400mcg of folic acid daily can raise the blood folate level irrespective of whether you are MTHFR genotype.

10.Folate and vitamin B are naturally found in many food sources which should definitely be part of the daily diet. Legumes, leafy greens, citrus fruits, broccoli, Brussels sprouts, bananas, avocados and nuts are rich in folate and should be consumed regularly to have normal levels of folate and promote healthy cell division irrespective of gene mutations.

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Peace and love 🙏