What are MTHFR Mutations and Their Impact on Catalysis?
Mutations in the MTHFR gene can lead to reduced enzymatic activity, affecting its catalytic efficiency. Two common polymorphisms, C677T and A1298C, have been extensively studied. These mutations can result in a thermolabile enzyme with reduced activity, thereby impairing the catalytic conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. This impairment can lead to elevated homocysteine levels, which are associated with increased risks of cardiovascular diseases and other health issues.
