Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues

Author:

Bury Alexander Gerard1,Vincent Amy E.1,Pyle Angela1,Actis Paolo2,Hudson Gavin1

Affiliation:

1. Wellcome Centre for Mitochondrial Research, Newcastle University

2. University of Leeds

Abstract

Abstract 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 tissue, 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.

Publisher

Research Square Platform LLC

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