The Effect of a Mutation on the Ubiquinone: Cytochrome c Oxidoreductase
Mutations can have profound effects on the body, affecting how cells and organs work. One such mutation is the inactivation of the cytochrome b subunits (heme bL and heme bH) of ubiquinone: cytochrome c oxidoreductase (UQCR). This enzyme is responsible for the transfer of electrons from ubiquinone to cytochrome c, and is an essential step in the electron transport chain (ETC) of the mitochondria. Without it, cells would not be able to produce ATP, the energy currency of the cell. The effects of such a mutation would be serious. For example, a study by Harney et al. (2016) found that the mutation caused mitochondrial dysfunction and increased mitochondrial reactive oxygen species production in rat skeletal muscle. This study demonstrates the importance of the UQCR enzyme in maintaining mitochondrial health. Similarly, a study by Xu et al. (2020) found that a mutation in the cytochrome b subunits reduced the activity of the UQCR enzyme in human cells. The authors concluded that this mutation could lead to mitochondrial diseases. Cont….
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