How Do MTHFR Polymorphisms Affect Enzyme Catalysis?
Polymorphisms in the MTHFR gene can result in structural changes to the enzyme, reducing its catalytic efficiency. For instance, the C677T variant results in an alanine to valine substitution, which can cause enzyme thermolability. This decreased stability can reduce the enzyme's ability to catalyze the conversion of folates effectively, impacting the metabolic pathways dependent on these reactions.
