Basic information of MTHFR :

Official Symbol of Gene	MTHFR
Species	Homo sapiens
Entrez Gene ID	4524
Official Full Name	methylenetetrahydrofolate reductase
Also known as	N/A
Gene Type	protein coding
dbXrefs	Ensembl:ENSG00000177000 MIM:607093; AllianceGenome:HGNC:7436
Map Location	1p36.22
Variation Type	polymorphism
refSNP ID	C677T

Sample information of multiple sclerosis:

Detected Sample	whole venous blood
Sample Detail	N/A
Detected Method	PCR-based restriction fragment length polymorphism assay
Disease	MS
Disease subtype	RRMS,PPMS,SPMS
Population	Turkish
Sample Size	130 MS patients / 150 group-matched controls

Literature information of multiple sclerosis :

Pubmed ID	25203152
Year	2014
Title	Association of methylenetetrahydrofolate reductase gene C677T polymorphism with multiple sclerosis in Turkish patients

Results of multiple sclerosis :

Risk Type	Disease risk
Main Result	Positive
Result	The genotype and allele frequencies of C677T polymorphism showed statistically significant differences between MS patients and controls.A significant association was observed when the patients were compared with the controls according to CC genotype versus CT + TT genotypes.
Mechanism/Pathway	MTHFR is a key enzyme-regulating folate and homocysteine metabolism.The MTHFR enzyme catalyzes the irreversibly conversion of methylenetetrahydrofolate (5,10-MTHF) to 5- methyltetrahydrofolate (5-MTHF).In homocysteine metabolism, 5-MTHF is necessary to remethylate the neurotoxic intermediate homocysteine to methionine, which itself serves as precursor of S-adenosylmethionine (SAM), essential for CNS myelination. The MTHFR C677T polymorphism leads to mild hyperhomocysteinemia and impairs the ability to process folate and methionine.Elevated homocysteine levels and reduced availability of SAM can increase the risk of extensive neuronal loss combined with diffuse demyelination.Moreover, homocysteine can directly damage CNS cells or influence macrophage activation, both of which are important aspects of MS pathology.