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Clonally expanded mtDNA point mutations are abundant in individual cells of human tissuesProceedings of the National Academy of Sciences of the United States of America, 99
- Publisher
- Wiley
- Copyright
- Journal compilation © 2009 Blackwell Publishing Ltd/The Anatomical Society of Great Britain and Ireland
- ISSN
- 1474-9718
- DOI
- 10.1111/j.1474-9726.2009.00492.x
- pmid
- 19489744
- Publisher site
- See Article on Publisher Site
Abstract
SummaryClonally expanded mitochondrial DNA (mtDNA) deletions accumulate with age in human substantia nigra (SN) and high levels cause respiratory chain deficiency. In other human tissues, mtDNA point mutations clonally expand with age. Here, the abundance of mtDNA point mutations within single SN neurons from aged controls was investigated. From 31 single cytochrome c oxidase normal SN neurons, only one clonally expanded mtDNA point mutation was identified, suggesting in these neurons mtDNA point mutations occur rarely, whereas mtDNA deletions are frequently observed. This contrasts observations in mitotic tissues and suggests that different forms of mtDNA maintenance may exist in these two cell types.
Journal
Aging Cell – Wiley
Published: Aug 1, 2009
Keywords: clonal expansion; mtDNA; neurons; point mutations