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Detection of age-related duplications in mtDNA from human muscles and bones

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Abstract

Several studies have demonstrated the age-related accumulation of duplications in the D-loop of mitochondrial DNA (mtDNA) extracted from skeletal muscle. This kind of mutation had not yet been studied in bone. The detection of age-related mutations in bone tissue could help to estimate age at death within the context of legal medicine or/and anthropological identification procedures, when traditional osteological markers studied are absent or inefficient. As we detected an accumulation of a point mutation in mtDNA from an older individual’s bones in a previous study, we tried here to identify if three reported duplications (150, 190, 260 bp) accumulate in this type of tissue. We developed a sensitive method which consists in the use of back-to-back primers during amplification followed by an electrophoresis capillary analysis. The aim of this study was to confirm that at least one duplication appears systematically in muscle tissue after the age of 20 and to evaluate the duplication age appearance in bones extracted from the same individuals. We found that the number of duplications increase from 38 years and that at least one duplicated fragment is present in 50% of cases after 70 years in this tissue. These results confirm that several age-related mutations can be detected in the D-loop of mtDNA and open the way for the use of molecular markers for age estimation in forensic and/or anthropological identification.

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Acknowledgments

We thank the institute of legal medicine of Strasbourg team and the Pr. N. Telmon of the CHU Toulouse Rangueil forensic laboratory for the access of muscle and bone samples.

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Authors and Affiliations

  1. Institute of Legal Medicine, EA4438, University of Strasbourg, 11 rue Humann, 67085, Strasbourg Cedex, France

    Marie Lacan, Christine Keyser, Audrey Farrugia, Jose-Pablo Baraybar & Bertrand Ludes

  2. Laboratoire A. M. I. S., CNRS FRE 2960, UPS Toulouse III, 37 Allées Jules Guesde, 31073, Toulouse Cedex, France

    Marie Lacan, Catherine Thèves & Eric Crubézy

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  1. Marie Lacan
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  2. Catherine Thèves
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  3. Christine Keyser
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  4. Audrey Farrugia
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  5. Jose-Pablo Baraybar
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  6. Eric Crubézy
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  7. Bertrand Ludes
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Correspondence to Marie Lacan.

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Lacan, M., Thèves, C., Keyser, C. et al. Detection of age-related duplications in mtDNA from human muscles and bones. Int J Legal Med 125, 293–300 (2011). https://doi.org/10.1007/s00414-010-0440-x

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  • DOI: https://doi.org/10.1007/s00414-010-0440-x

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