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Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR
Authors:Simonetta Simonetti  Xi Chen  Salvatore DiMauro  Eric A. Schon
Affiliation:1. Department of Neurology, Columbia University, New York, NY USA;2. Department of Genetics and Development, Columbia University, New York, NY USA
Abstract:We have developed a quantitative PCR technique to measure the amount of a specific mitochondrial DNA deletion (ΔmtDNA), the so-called ‘common deletion’, in human tissues. Using this method, we estimate that there is a 10 000-fold increase in this ΔmtDNA species in muscle during the course of the normal human lifespan. The maximum amount of common deletion observed in aged muscle was approx 0.1%. Tissues that turn-over slowly, such as skeletal muscle and heart, contained more ΔmtDNA than more rapidly dividing tissues, such as a liver, in agreement with studies performed by others.
Keywords:Mitochondrion  mtDNA  Respiratory chain  Kearns-Sayre syndrome  Common deletion  Aging
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