Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication

Yuichi Michikawa, Franca Mazzucchelli, Nereo Bresolin, Guglielmo Scarlato, Giuseppe Attardi

Research output: Contribution to journalArticlepeer-review

Abstract

Progressive damage to mitochondrial DNA (mtDNA) during life is thought to contribute to aging processes. However, this idea has been difficult to reconcile with the small fraction of mtDNA so far found to be altered. Here, examination of mtDNA revealed high copy point mutations at specific positions in the control region for replication of human fibroblast mtDNA from normal old, but not young, individuals. Furthermore, in longitudinal studies, one or more mutations appeared in an individual only at an advanced age. Some mutations appeared in more than one individual. Most strikingly, a T414G transversion was found, in a generally high proportion (up to 50 percent) of mtDNA molecules, in 8 of 14 individuals above 65 years of age (57 percent) but was absent in 13 younger individuals.

Original languageEnglish
Pages (from-to)774-779
Number of pages6
JournalScience
Volume286
Issue number5440
DOIs
Publication statusPublished - Oct 22 1999

ASJC Scopus subject areas

  • General

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