MTHFR mutations and its types:

MTHFR mutations and its types:
June 28 09:33 2018 Print This Article

MTHFR mutation is the major reasons for many irreversible health defects in human body. There are nearly thirty types of mutations and mutated genes which are found till now and there are many which are still under research. The MTHFR mutation genes are founded by using MTHFR test kit. The MTHFR gene test will provide inferences about the type of mutations genes. There are two types of classifications of MTHFR mutation genes are as follows:

  • Heterozygous mutations
  • Homozygous mutations
  • Compound Heterozygous

The above classifications are based on the presence of the content of the genes.

Homozygous mutations have only two mutated genes. But both the genes are the copy of one another. The Homozygous mutations are quite severe as it has a bulk content of the same type of genes which will affect and reduce the presence of methyl content. This will lead to many mishaps like loss or carriage, clotting of blood will occur.

Homozygous mutation is the single mutation gene availability. This is quite common as these genes are sometimes transmitted from the parents to the children.  Sometimes many new born babies are found to have MTHFR related disease. The major reason for the problems faced by children and new born babies is only due to the parents. These mutation genes  are caused birth itself which cannot be prevented but can be diagnosed in proper way if we fund it before it get severed.

Compound Heterozygous mutation is nothing but the presence of the combination of two different mutation genes. Presence of C677T and A198C as a compound is the right example for this type of mutation. These types of mutations genes will lead to the most severe diseases like cardiovascular arrest, miscarriage of babies, thrombosis, clotting of blood and many more diseases which are very dreadful.

These are the major types of MTHFR mutations.


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Jack Allardice
Jack Allardice

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