Media Inquiries
- 615-322-6397 Email
Latest Stories
- Dare to Grow: Chancellor Diermeier’s full Commencement address to the Class of 2022
- Amanda Lea named 2022 Searle Scholar, wins $300K to pursue research on effect of early-life environments on human health
- Vanderbilt University School of Nursing launches Tennessee’s first master of nursing degree
- Campus Dining participates in team-building, volunteer activity for VCH
- 2022 Postdoc Awards ceremony is May 24
Mitochondria – cellular “power plants” that contain their own DNA (mtDNA) – are passed down directly from mother to child, which makes it possible to construct evolutionary “trees” illustrating the relatedness among human lineages.
To explore how variations in mtDNA have evolved, David Samuels and colleagues combined detailed human mtDNA trees with calculations of how pathogenic (or detrimental) a single amino acid change to the 13 mtDNA-encoded proteins would be (represented by a “pathogenicity score”).
In the April 8 American Journal of Human Genetics, they show that variants with high pathogenicity scores are rarer in older branches of the tree (they are evolutionarily selected against). Variants that appear multiple times in the tree had significantly lower pathogenicity scores than those that appear only once. The investigators also compiled a list of all possible amino acid variations and their pathogenicity scores, generating a tool that can be used to evaluate mtDNA variants and mutations associated with mitochondrial diseases, aging and cancer.
The research was funded by the Portuguese Foundation for Science and Technology (FCT).