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sudden death up to age 70 (Helsinki Sudden Death Study). The most prevalent ... PCR, the abundance of this prevalent class of sublimons in heart was found to ...
© 2002 Oxford University Press

Human Molecular Genetics, 2002, Vol. 11, No. 3

317–324

The relationship between somatic mtDNA rearrangements, human heart disease and aging Olli A. Kajander1,2, Pekka J. Karhunen2 and Howard T. Jacobs1,3,* 1Institute

of Medical Technology, 2Department of Forensic Medicine, University of Tampere and Tampere University Hospital, 33014 Finland and 3Institute of Biomedical and Life Sciences, University of Glasgow, Glasgow G12 8QQ, UK Received October 11, 2001; Revised and Accepted November 27, 2001

The lifetime accumulation of low-abundance, somatic mtDNA re-arrangements (sublimons) has been proposed as a potential contributor to aging, and also to diseases such as cardiomyopathy or coronary heart disease. Tissue-specific sublimons, varying in abundance by three orders of magnitude between individuals, have recently been observed in myocardium of control subjects. To study the relationship between myocardial sublimon levels and various types of cardiac disease and aging, we applied a semi-quantitative fluorescent PCR assay on cellular DNA extracted from left ventricle in a series of 300 well characterized male victims of sudden death up to age 70 (Helsinki Sudden Death Study). The most prevalent classes of sublimons were present at