Frequency of somatic mitochondrial mutations increases with age

Physiological

Data Availability

1 to 99 years

Tissue

  • brain Changes ⇩

References

  • Kennedy, SR et al. (2013) "Ultra-sensitive sequencing reveals an age-related increase in somatic mitochondrial mutations that are inconsistent with oxidative damage." PLoS Genet. 9(9):e1003794 (PubMed)
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External Links

Description

Using a highly sensitive Duplex Sequencing methodology, the sequencing of mtDNA purified from human brain tissue from both young (<1 year) and old (75-99 years old) individuals showed that the frequency of point mutations increases aproximately 5-fold with age. The mutation spectra for both the young and old samples reveals that the predominant mutations are transition mutations, consistent with either misincorporation by DNA polymerase gamma or deamination of cytosine to form uracil. The relative abundance of each mutation type is the same in young and old. In contrast, G->T mutations (a signature of oxidative damage to DNA), do not significantly increase with age.