The mechanisms underlying mitochondrial DNA depletion syndrome have been modeled using the primary mitochondrial structures.
Mutations in the genes TK2 and DGUOK, which affect the availability of mitochondrial dNTPs required for mtDNA replication, as well as those required for mtDNA replication on a molecular level, such as the POLG polymerase and the TWINKLE helicase, can all result in mitochondrial DNA depletion. The ability of the patient's cells to duplicate mtDNA is severely restricted by either type of deficiency over time, which results in a decrease in the amount of mtDNA present in the cells and a corresponding decline in oxidative phosphorylation and mitochondrial metabolism.
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