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Aging-Dependent Large Accumulation of Point Mutations in the Human mtDNA Control Region for Replication

Michikawa, Yuichi, Mazzucchelli, Franca, Bresolin, Nereo, Scarlato, Guglielmo, Attardi, Giuseppe·1999·Science

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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.

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Authors: Michikawa, Y., Mazzucchelli, F., Bresolin, N., Scarlato, G., & Attardi, G.
Venue: Science
Publisher: American Association for the Advancement of Science (AAAS)
Published: 1999-10-22
Volume: 286
Issue: 5440
Pages: 774-779
ISSN: 0036-8075 (ISSN-L)
1095-9203
DOI: 10.1126/science.286.5440.774
OpenAlex: W2074303856
Cited by: 725
References: 1
FWCI: 15.01
Type: journal article
Language: en
Open access: closed

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Aging-Dependent Large Accumulation of Point Mutations in the Human mtDNA Control Region for Replication

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