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Date
2023Type
- Book Chapter
ETH Bibliography
yes
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Abstract
Mitochondrial DNA (mtDNA) mutations are found in several human pathologies and are associated with aging. Deletion mutations in mtDNA result in the loss of essential genes for mitochondrial function. Over 250 deletion mutations have been reported and the common deletion is the most frequent mtDNA deletion linked to disease. This deletion removes 4977 base pairs of mtDNA. It has previously been shown that exposure to UVA radiation can promote the formation of the common deletion. Furthermore, aberrations in mtDNA replication and repair are associated with formation of the common deletion. However, molecular mechanisms describing the formation of this deletion are poorly characterized. This chapter describes a method to irradiate human skin fibroblasts with physiological doses of UVA and the subsequent detection of the common deletion by quantitative PCR analysis. Show more
Publication status
publishedBook title
Mitochondrial DNA: Methods and ProtocolsJournal / series
Methods in Molecular BiologyVolume
Pages / Article No.
Publisher
SpringerSubject
Mitochondrial DNA; UVA radiation; Deletion Mutations; Common Deletion; Replication and RepairMore
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ETH Bibliography
yes
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