How are MTHFR and Fruchtbarkeit related?

The relationship between MTHFR and fertility is frequently discussed but not conclusively proven. MTHFR is a key enzyme in folate metabolism. Certain variants (e.g., C677T) can reduce enzyme activity and lead to elevated homocysteine levels. Elevated homocysteine has been associated with recurrent pregnancy loss, preeclampsia, and neural tube defects. However, the evidence is mixed: some meta-analyses find an association between MTHFR polymorphisms and recurrent miscarriage, while others do not. The clinical relevance for general fertility remains unclear. A DNA test for MTHFR can indicate potential risk but does not replace medical evaluation. Supplementation with methylfolate instead of folic acid is often suggested, but it is not necessary for all carriers. Importantly, an MTHFR finding alone does not justify a fertility diagnosis or therapy. The evidence is moderate, based on association studies rather than randomized controlled trials.