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Date of last update: 10/12/2017.

Forum Name: Hematology Topics

Question: Could 2 copies of C677T gene be the cause of Neuropathy?

 Dave56 - Wed Jul 07, 2010 9:14 am

Hi, my wife has been diagnosed as having nerve damage in her feet. She has been tested for diabetes and test came back negative. She has had many other tests trying to dignose the cause. She is 50 years old. She is in overall excellent health, she's not overweight, she eats a healthy diet. None of the doctors that she has seen have been able to tell her whats causing the nerve damge. Her neuropathy appears to be getting worse as now its moving up her legs.

She had a blood clot in her spleen early in 2009. It was determined at that time that she has 2 copys of the C677T gene.

Could the neuropathy somehow be related to the 2 copys of the C677T gene?
 Dr.M.Aroon kamath - Wed Aug 11, 2010 12:30 am

User avatar Hi,
The methylentetrahydrofolate reductase (MTHFR) gene has been found to affect oxidative stress status in human body. The gene codes for an enzyme that plays a central role in the folate metabolism.

Nucleotide transition (C to T) at nucleotide 677 of MTHFR causes alanine to valine substitution in the N-terminal catalytic domain, leading to 30% and 65% reduction in activity for heterozygotes and homozygotes of the variant allele, respectively. Reduced activity of MTHFR leads to high blood levels of homocysteine, which gets rapidly auto-oxidized, leading to the production of cytotoxic reactive oxygen species and results in endothelial damage.

There is evidence that (MTHFR) C677T gene polymorphism is involved in the pathogenesis of glaucomatous optic neuropathy.The two common types of glaucoma include primary open angle glaucoma (POAG) and primary closed angle glaucoma (PCAG).The type of glaucoma that may occur seems to be related to ethnicity.

(MTHFR) C677T gene polymorphisms may influence hematological and neurological dysfunction in cobalamin-deficient patients.

It Is suspected to cause accelerated atherosclerosis in type 2 diabetic patients.

To answer your specific question, as yet, there is insufficient evidence to conclude that (MTHFR) C677T gene polymorphism causes peripheral neuropathy, macro or microangiopathy.
Best wishes!

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