MTHFR Gene (Methylenetetrahydrofolate Reductase)

Informazioni su questo gene

Enzima chiave nel metabolismo dei folati e nel ciclo di metilazione

Converte il 5,10-metilentetraidrofolato in 5-metiltetraidrofolato

rs2274976 MTHFR R594Q Frequenza: 5.0%

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

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

Second major MTHFR variant affecting BH4 synthesis

Genotipo	Impatto	Cosa significa
AA (Normale)	Normale	Normal BH4 pathway function for neurotransmitter production.
AC (Portatore)	Impatto basso	Mildly reduced BH4 synthesis. May affect mood and neurotransmitter balance.
CC (Variante)	Moderato	Reduced BH4 synthesis. May benefit from SAMe or methylfolate supplementation.

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

Variante MTHFR piu studiata che influenza il metabolismo dei folati

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