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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age
American Journal of Human Genetics, Volume 68, No. 3, Year 2001
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Description
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. © 2001 The American Society of Human Genetics.
Authors & Co-Authors
Elson, Joanna L.
United Kingdom, Newcastle
Newcastle University
Samuels, David C.
United Kingdom, Newcastle
Newcastle University
Turnbull, Douglass M.
United Kingdom, Newcastle
Newcastle University
Chinnery, Patrick Francis
United Kingdom, Newcastle
Newcastle University
Statistics
Citations: 257
Authors: 4
Affiliations: 1
Identifiers
Doi:
10.1086/318801
ISSN:
00029297
Research Areas
Genetics And Genomics
Maternal And Child Health