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Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages
Author(s) -
Liu Vincent W. S.,
Zhang Chunfang,
Pang ChengYoong,
Lee HsinChen,
Lu ChingYou,
Wei YauHuei,
Nagley Phillip
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:3<191::aid-humu2>3.0.co;2-l
Subject(s) - biology , mitochondrial dna , somatic cell , genetics , mutation , human skin , polymerase chain reaction , microbiology and biotechnology , allele , mutant , incidence (geometry) , allele frequency , human mitochondrial genetics , population , gene , physics , demography , sociology , optics
The incidence (frequency of occurrence) and abundance (percentage of mutant out of total mtDNA population) of two different somatic mtDNA mutations in human skin were investigated in 44 subjects ranging from 19 to 87 years of age. Using quantitative allele‐specific polymerase chain reaction (AS‐PCR) to analyse the A→G base substitution at nucleotide 3243, 50% of the samples showed detectable levels of that particular mutation, with abundances ranging from 0.01% to 0.12%. In the same set of skin samples, the overall incidence of the 4977 bp “common” deletion was also ˜ 50%. Where detected, the abundance of this deletion ranged from 0.0002% to 0.1%. Comparative analyses of the incidence and abundance of these two mutations, collectively and in individual skin samples, led to these two conclusions: (1) there is independent occurrence of these two mtDNA mutations in human skin, and (2) whereas the 4977 bp deletion shows an age‐associated accumulation in human skin, no age association is apparent for the 3243 A→G base substitution. Furthermore, in general, there is a much lower incidence of somatic mutations in mtDNA of human skin as compared to that in postmitotic tissues such as skeletal muscle. Hum Mutat 11:191–196, 1998. © 1998 Wiley‐Liss, Inc.