MTHFR Gene (Methylenetetrahydrofolate Reductase)

Über dieses Gen

Schluesselenzym im Folsaeure-Stoffwechsel und im Methylierungszyklus

Konvertiert 5,10-Methylentetrahydrofolat zu 5-Methyltetrahydrofolat

rs2274976 MTHFR R594Q Häufigkeit: 5.0%

Genotyp	Auswirkung	Was das bedeutet
GG (Normal)	Normal	Normal MTHFR activity at this position. Maintain folate, B12 and B6 intake.
GA (Träger)	Geringer Einfluss	Mildly reduced MTHFR activity - more relevant when combined with C677T. Ensure natural folate (leafy greens), B12 and B6.
AA (Variante)	Moderat	Reduced enzyme efficiency that can compound the C677T effect. Prioritise methylfolate, B12 and B6, and monitor homocysteine.

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

Second major MTHFR variant affecting BH4 synthesis

Genotyp	Auswirkung	Was das bedeutet
AA (Normal)	Normal	Normal BH4 pathway function for neurotransmitter production.
AC (Träger)	Geringer Einfluss	Mildly reduced BH4 synthesis. May affect mood and neurotransmitter balance.
CC (Variante)	Moderat	Reduced BH4 synthesis. May benefit from SAMe or methylfolate supplementation.

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

Am haeufigsten untersuchte MTHFR-Variante, die den Folsaeure-Stoffwechsel beeinflusst

Genotyp	Auswirkung	Was das bedeutet
CC (Normal)	Normal	Normal folate metabolism. Your body efficiently converts folic acid to its active form.
CT (Träger)	Moderat	Reduced MTHFR enzyme activity (60-70%). Consider methylfolate supplements and increase leafy green intake.
TT (Variante)	Hoher Einfluss	Significantly reduced MTHFR activity (30%). Methylfolate supplementation recommended. Avoid synthetic folic acid.