MTHFR Gene (Methylenetetrahydrofolate Reductase)

Sobre este gene

Enzima-chave no metabolismo do folato e no ciclo de metilacao

Converte 5,10-metilenotetrahidrofolato em 5-metiltetrahidrofolato

rs2274976 MTHFR R594Q Frequência: 5.0%

Genótipo	Impacto	O que significa
GG (Normal)	Normal	Normal MTHFR activity at this position. Maintain folate, B12 and B6 intake.
GA (Portador)	Impacto baixo	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 Frequência: 30.0% Chr. 1 : 11,854,476

Second major MTHFR variant affecting BH4 synthesis

Genótipo	Impacto	O que significa
AA (Normal)	Normal	Normal BH4 pathway function for neurotransmitter production.
AC (Portador)	Impacto baixo	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 Frequência: 35.0% Chr. 1 : 11,856,378

Variante MTHFR mais estudada que influencia o metabolismo do folato

Genótipo	Impacto	O que 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.