Knowing More About MTHFR Mutation

Knowing More About MTHFR Mutation – What is It All About?

An MTHFR mutation is basically an issue associated with poor enzyme and methylation production. MTHFR mutations affect every individual differently, oftentimes contributing to barely any prominent symptoms at all, whereas other times, it could lead to very serious and long-term health issues.


Though the exact prevalence rate is quite high for debate, it is believed that more than 30 percent to 50 percent of people worldwide may carry a mutation in their MTHFR gene, which is usually inherited from parent to child. Approximately 14 to 20 percent of the population perhaps has a severe MTHFR mutation that greatly impacts their overall health.

The MTHFR mutation was first discovered during the completion of the Human Genome Project. Researchers found that people suffering from this sort of an inherited mutation may develop certain diseases such as autism, autoimmune disorders, atherosclerosis, Alzheimer’s, ADHD and more often than those without the mutation.

There is a lot that needs to be learned about what a particular sort of mutation means for people who carry it and then pass it on along their kids. Studies are still being conducted on the different medical conditions that are caused by, or partially attribute to the MTHFR gene mutations.

To date, there have been numerous different health conditions that have been associated with MTHFR mutations, though just because a child inherits mutation does not mean that an individual will end up experiencing any health issues.

What is MTHFR Mutation Actually?

MTHFR is basically a gene that provides the body with the instructions that help generate a particular enzyme called as the methylenetetrahydrofolate reductase. As a matter of fact, the MTHFR is the short form of this enzyme.

There are two prime MTHFR mutations that researchers have been mainly focusing on. These mutations are called the polymorphisms and affect the genes that are referred to as MTHFR A1298C and MTHFR C677T. Mutations can take place on different locations and can also be inherited from just one or both the parents. Having a mutated allele is linked with increased risk of several health issues, but having these two increases the risk a lot more.

An MTHFR gene mutation can also change how some people metabolize of even convert some of the most crucial nutrients from their diets into an active protein, minerals and vitamins. Genetic mutations could also change hormone and neurotransmitter levels. In some of the cases, not all, change is how these enzymes work greatly affect the health parameters, including brain functionality, cholesterol levels, endocrine functions, digestion and much more.