MTHFR (methyleneTetrahydrofolatus reductase) clavis est enzyme in processu metabolismi folati, qui conversionem methylenetetrahydrofolatam 5,10-methylenetetrahydrofolatam delere potest.5-methyltetrahydrofolatum (5-MTHF)ut indirectus donator yl coetuum, dein synthesim participentde purinis et pyrimidinis et methylatione DNA, RNA, et proteinis in corpore, aequabilitatem in corpore normalem servans homocysteinum.
MTHFR polymorphismum geneticum habet, et verisimile est C677T situs mutationis.
Mutatio signanter potest diminuere MTHFR C677T activitatem ofMTHFR enzymeet sunt hec tria genotypa.
Genotype |
MTHFR operatio |
Folate metabolismi inordinatio |
677CC |
100% |
Normal |
677CT |
65% |
Moderatus periculo |
677TT |
30% |
Altus periculum |