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. This enzyme plays a role in processing amino acids which are the building blocks for proteins. Without the enzyme activity of MTHFR, methylation (a metabolic process that switches genes on and off as well as repairs DNA) 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, the pathway functions on about 10-15% at best.
Approved treatments are for:
30%-50% of us carry a mutation in the MTHFR gene, passed down from our parents. 30% of the US population have two gene defects and 40% have one gene defect. 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 the 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.