Article
Purifying Selection against Pathogenic Mitochondrial DNA in Human T Cells.
The New England journal of medicine - 15 Oct 2020
Walker Melissa A, Lareau Caleb A, Ludwig Leif S, Karaa Amel, Sankaran Vijay G, Regev Aviv, Mootha Vamsi K
Abstract excerpt
Many mitochondrial diseases are caused by mutations in mitochondrial DNA (mtDNA). Patients' cells contain a mixture of mutant and nonmutant mtDNA (a phenomenon called heteroplasmy). The proportion of mutant mtDNA varies across patients and among tissues within a patient. We simultaneously assayed single-cell heteroplasmy and cell state in thousands of blood cells obtained from three unrelated patients who had...
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