How Do Catalytic Defects Cause Mitochondrial Diseases?
Catalytic defects in the enzymes of the ETC can severely impair mitochondrial function. For instance, mutations in genes encoding components of Complex I (NADH:ubiquinone oxidoreductase) can lead to reduced efficiency in electron transfer, causing a buildup of NADH and a decrease in ATP production. Such inefficiencies lead to increased production of reactive oxygen species (ROS), further damaging mitochondrial and cellular structures.
