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Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues

Lookup NU author(s): Alex Bury, Dr Angela Pyle, Dr Amy VincentORCiD, Professor Gavin Hudson

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Abstract

© The Author(s) 2024.Mitochondrial function is critical to continued cellular vitality and is an important contributor to a growing number of human diseases. Mitochondrial dysfunction is typically heterogeneous, mediated through the clonal expansion of mitochondrial DNA (mtDNA) variants in a subset of cells in a given tissue. To date, our understanding of the dynamics of clonal expansion of mtDNA variants has been technically limited to the single cell-level. Here, we report the use of nanobiopsy for subcellular sampling from human tissues, combined with next-generation sequencing to assess subcellular mtDNA mutation load in human tissue from mitochondrial disease patients. The ability to map mitochondrial mutation loads within individual cells of diseased tissue samples will further our understanding of mitochondrial genetic diseases.

Publication metadata

Author(s): Bury A, Pyle A, Vincent AE, Actis P, Hudson G

Publication type: Article

Publication status: Published

Journal: Scientific Reports

Year: 2024

Volume: 14

Issue: 1

Online publication date: 14/06/2024

Acceptance date: 10/06/2024

Date deposited: 24/06/2024

ISSN (electronic): 2045-2322

Publisher: Nature Research

URL: https://doi.org/10.1038/s41598-024-64455-0

DOI: 10.1038/s41598-024-64455-0

PubMed id: 38877095

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