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Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age

Lookup NU author(s): Dr Joanna Elson, Professor David Samuels, Emeritus Professor Doug Turnbull, Professor Patrick Chinnery


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Human tissues acquire somatic mitochondrial DNA (mtDNA) mutations with age. Very high levels of specific mtDNA mutations accumulate within individual cells, causing a defect of mitochondrial oxidative metabolism. This is a fundamental property of nondividing tissues, but it is not known how it comes about. To explore this problem, we developed a model of mtDNA replication within single human cells. Using this model, we show that relaxed replication of mtDNA alone can lead, through random genetic drift, to the clonal expansion of single mutant events during human life. Significant expansions primarily develop from mutations acquired during a critical period in childhood or early adult life.

Publication metadata

Author(s): Elson JL; Chinnery PF; Turnbull DM; Samuels DC

Publication type: Article

Publication status: Published

Journal: American Journal of Human Genetics

Year: 2001

Volume: 68

Issue: 3

Pages: 802-806

ISSN (print): 0002-9297

ISSN (electronic): 1537-6605

Publisher: Cell Press


DOI: 10.1086/318801

PubMed id: 11179029


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