Mutagenesis, Vol. 14, No. 1, 77-82,
January 1999
© 1999 UK Environmental Mutagen Society/Oxford University Press
Detection of the `4977 bp' mitochondrial DNA deletion in human atherosclerotic lesions
1 Laboratory of Mutagenesis-CSTA, Istituto Nazionale per la Ricerca sul Cancro, Largo R.Benzi 10, I-16132 Genoa, 2 Institute of Hygiene and Preventive Medicine, University of Genoa, Via A.Pastore 1, I-16132 Genoa, 3 Centro Interuniversitario per la Ricerca sul Cancro, University of Genoa, Largo R.Benzi 10, I-16132 Genoa, 4 Anatomic Pathology Department, Sampierdarena Hospital, Corso Scassi 1, I-16149 Genoa and 5 Department of Clinical and Experimental Oncology, University of Genoa, Largo R.Benzi 10, I-16132 Genoa, Italy
The presence of the 4977 bp deletion (`common deletion') in the mitochondrial DNA (mtDNA) is associated with defects in the metabolic machinery acquired during ageing as a hallmark of a degenerative phenotype. We analysed 27 samples (18 from surgical patients and nine from autopsy cases) of DNA extracted from smooth muscle cells of abdominal aorta fragments affected by atherosclerotic lesions. The deletion was detected by PCR amplification–gel electrophoresis and characterized by sequencing of the PCR product. The mtDNA `common deletion' was detected in all analysed samples. However, its levels were not particularly high, which may be ascribed to the fact that smooth muscle cells in atherosclerotic lesions have a lower energy requirement and an appreciable proliferation rate, as compared for instance with cardiac myocytes. When the subjects were divided into two numerically equivalent age classes (60–72 years plus a 45-year-old subject versus 73–95 years), the deletion had significantly higher levels in the older subjects. Conversely, its presence did not correlate with source (surgical or autoptic), sex, cigarettes consumption, other clinical and anamnestic parameters or with the levels of adducts and 8-hydroxy-2'-deoxyguanosine measured in the nuclear DNA of the same samples. A previously unreported deletion of 5111 bp was additionally found in the mtDNA from a 45-year-old woman. The origin of this lesion seems to be compatible with the slipped mispairing model proposed for the `common deletion'.
6 To whom correspondence should be addressed. Tel: +39 10 353 8500; Fax: +39 10 353 8504; Email: sdf{at}unige.it
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