MTHFR Gene (Methylenetetrahydrofolate Reductase)

Sobre este gen

Enzima clave en el metabolismo del folato y el ciclo de metilacion

Convierte 5,10-metilentetrahidrofolato en 5-metiltetrahidrofolato

rs2274976 MTHFR R594Q Frecuencia: 5.0%

Genotipo	Impacto	Qué significa
GG (Normal)	Normal	Normal MTHFR activity at this position. Maintain folate, B12 and B6 intake.
GA (Portador)	Impacto bajo	Mildly reduced MTHFR activity - more relevant when combined with C677T. Ensure natural folate (leafy greens), B12 and B6.
AA (Variante)	Moderado	Reduced enzyme efficiency that can compound the C677T effect. Prioritise methylfolate, B12 and B6, and monitor homocysteine.

rs1801131 A1298C Frecuencia: 30.0% Chr. 1 : 11,854,476

Second major MTHFR variant affecting BH4 synthesis

Genotipo	Impacto	Qué significa
AA (Normal)	Normal	Normal BH4 pathway function for neurotransmitter production.
AC (Portador)	Impacto bajo	Mildly reduced BH4 synthesis. May affect mood and neurotransmitter balance.
CC (Variante)	Moderado	Reduced BH4 synthesis. May benefit from SAMe or methylfolate supplementation.

rs1801133 C677T Frecuencia: 35.0% Chr. 1 : 11,856,378

Variante MTHFR mas estudiada que afecta el metabolismo del folato

Genotipo	Impacto	Qué significa
CC (Normal)	Normal	Normal folate metabolism. Your body efficiently converts folic acid to its active form.
CT (Portador)	Moderado	Reduced MTHFR enzyme activity (60-70%). Consider methylfolate supplements and increase leafy green intake.
TT (Variante)	Impacto alto	Significantly reduced MTHFR activity (30%). Methylfolate supplementation recommended. Avoid synthetic folic acid.