What is MTHFR/Methylation Disease?
MTHFR is a form of an autoimmune disease. It is actually the name of an enzyme that adds a methyl group to folic acid so the body can process the folic acid, it is also responsible for being able to properly process vitamin B9, it converts homocysteine onto methionine which regulates the body’s metabolism and assists with muscle growth and plays a role in ridding the body of toxins. The gene is involved in a ton of bodily processes, it actually stands for methylenetetrahydrofolate reductase, quite a tongue-twister and the reason for its abbreviation.
People with an MTHFR gene mutation have a seriously reduced ability to convert folic acid or folate into a form the body can process. Although the name sounds bad with proper care and management the condition shouldn’t stop anyone from living a full life.
Genes are made up of DNA, the directions for each cell, think of it as a HUGE, yet tiny set of instructions for every cell in the body. Every person gets two copies of each gene, one from the mother and one from the father. These are given in pairs called alleles and everyone basically has the same number of genes that code for the same processes and proteins that create variations that exist between individuals. Some genes give a person their height, some their eye color, some their hair color and other distinctive “traits” if someone has a mismatched pair of genes, it can result in severe cases of developmental delays and defects.
MTHFR is involved in a series of processes for the human body. It transforms folate (vitamin B9) into a substance the body can use and transforms a by-product of this process called homocysteine which is associated with the intravascular inflammation and a high number of the medical problems associated with MTHFR. It is supposed to assist in the formation of the amino acid methionine, which is needed in protein formation and for the production of S-adenosylmethionine (SAM-E). A universal donor for almost 100 substrates including DNQA, RNA, proteins, lipids, and hormones. Methylation is when one molecule passes a methyl group to another molecule, something that is constantly happening in a person’s body millions of times a minute. When a gene sequence is on but supposed to be off or vice versa and the healthy cells continue to form but instead continue to replicate, they form a mass, otherwise known as a tumor, otherwise known as cancer. This is why MTHFR SNP cells increase the risk of a person developing cancer.
The importance of MTHFR C677T SNP is associated with increased risk of a number of serious conditions like vascular disease, high blood pressure, heart disease cognitive dysfunction, Alzheimer's disease, excessive clotting disorders, which increased risk of stroke, glaucoma, depression, anxiety and a decreased ability to benefit from taking antidepressants. It also causes fertility problems, miscarriages, intrauterine misdevelopment of unborn infants resulting in cleft palates, spinal bifida and worse.
Aside from all that, it messes with so many systems that a person who has the MTHFR gene also usually suffers from anemia, fatigue, difficulty maintaining balance, dementia, decreased ability to remember things and much more. So, perhaps it is fortunate the gene is abbreviated the way it is, as it can present all sorts of problems for those who carry the mutation.
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