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MTHFR, DNA Mutation Analysis

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Methylenetetrahydrofolate Reductase (MTHFR), DNA Mutation Analysis:

"This test is performed using a simple cheek swab. After purchase, a Test kit will be shipped to your home. After collecting the sample as per instructions provided should shipped back to TopBlood lab for testing. Results will be available in 5-7 business days after receiving the sample."

MTHFR is very critical in the function of methylation, a complex biochemical process that regulates gene expression (turns genes on & off) and governs intracellular detoxification. MTHFR is needed for the metabolism of folate (folic acid) and is a cofactor needed to convert homocysteine (a potentially toxic amino acid) to methionine. Folate (the salt of folic acid) is a vitamin the body needs for day-to-day functioning. It is required at higher doses during pregnancy, when it has an important role in preventing the formation of neural tube defects. Folate deficiency can cause glossitis, diarrhoea, gastrointestinal lesions, anaemia and poor growth.

Mutations in MTHFR gene leades to hyperhomocystenemia, which leads to the production of precarious neurotoxic product homocysteic acid (HCA) and cysteine sulfinic acid (CSA) which acts as an N-methyl-D-aspartate (NMDA) receptor agonist and has neurotoxic effects on dopaminergic neurons. Mutations in MTHFR gene have also been linked to opiod dependency. 

MTHFR polymorphism and clinical characteristics have recently been shown to confer susceptibility to suicide attempt in chronic patients with schizophrenia.

MTHFR polymorphism has also been linked to multiple myeloma, acute coronary syndrome, multiple sclerosis, colorectal neoplasia, erectile dysfunction, susceptibility pregnancy loss and hypertension.

MTHR gene polymorphism has also been considered as an independent risk factor and a novel biomarker of vascular disease.


MTHFR genetic testing: Controversy and clinical implications.

The Prevalence and Role of MTHFR Polymorphisms in Opiate Dependency.

Hyperhomocysteinemia: an independent risk factor or a simple marker of vascular disease?

The MTHFR C677T Variant is Associated with Responsiveness to Disulfiram Treatment for Cocaine Dependency.