Methyl Tetra Hydro Folate Reductase (MTHFR) Deficiency
The goal of this project is to identify disorders that cause disease and then treat the causes. The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. The enzyme plays a role in processing amino acids. Amino acids are the building block for proteins. It is necessary for methylation to occur, a metabolic process that switches genes on and off, repairs DNA, etc. Without the enzyme activity of MTHFR, methylation of folate and folic acid cannot occur properly. MTHFR is the first of its kind to have an FDA approved treatment.
There are two common variants that can be tested but there are as many as 50+ variants. If both variants are proved defective, pathway functions on about 10-15% at best.
Approved treatments are for:
30%-50% of us carry a mutation in the MTHFR gene, pass down from our parents. 30% of the US population have both genes defective and 40% have one gene defective. 100% are exposed to environmental toxins that affect the BPA pathway.
Some factors that aggravate the genetic disorder:
Measures that improve symptoms:
Most people with a mutation remain unaffected and experience very little symptoms but for some, enzyme efficiency can drop down to between 30%-70% depending on variant of mutation. There are numerous genetic mutations that can hinder methylation but MTHFR mutation is very important in the enzyme development. Taking the necessary steps to prevent and treat the MTHFR mutation can lower risks of cardiovascular disease and vitamin B deficiencies.