Adam E. Osborne, John E. Rice, J Aquiles Sanchez and Lawrence J. Wangh
Mitochondrial dysfunction is linked to disease, but it remains unclear whether accumulation of random mutations in the mitochondrial genome is the cause of dysfunction. Using digital or near-digital LATE-PCR with Lights-On/Lights- Off probes we have measured the mutational load in mitochondrial genomes. Exposure of HepG2 and CCD-1112Sk cells to AZT for thirty days caused a significant increase in mutations in the three mitochondrial loci examined. These results demonstrate the utility of our method for analysis of mutational load without sequencing and reinforce the fact that mitochondrial DNA damage due to drugs, aging, and disease should be studied in detail.
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