Article
Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality.
Nature communications - 30 Sept 2023
Hong Yun Soo, Battle Stephanie L, Shi Wen, Puiu Daniela, Pillalamarri Vamsee, Xie Jiaqi, Pankratz Nathan, Lake Nicole J, Lek Monkol, Rotter Jerome I, Rich Stephen S, Kooperberg Charles, Reiner Alex P, Auer Paul L, Heard-Costa Nancy, Liu Chunyu, Lai Meng, Murabito Joanne M, Levy Daniel, Grove Megan L, Alonso Alvaro, Gibbs Richard, Dugan-Perez Shannon, Gondek Lukasz P, Guallar Eliseo, Arking Dan E
Abstract excerpt
Mitochondria carry their own circular genome and disruption of the mitochondrial genome is associated with various aging-related diseases. Unlike the nuclear genome, mitochondrial DNA (mtDNA) can be present at 1000 s to 10,000 s copies in somatic cells and variants may exist in a state of heteroplasmy, where only a fraction of the DNA molecules harbors a particular variant. We quantify mtDNA heteroplasmy in...
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