Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues

Abstract excerpt

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...

Topics

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• DNA, Mitochondrial
• Genetic Variation
• Heteroplasmy
• High-Throughput Nucleotide Sequencing
• Mitochondria
• Mitochondrial Diseases
• Mutation
• Single-Cell Analysis

Identifiers and source

Literature Corpus work

12f16fb6-38f3-573b-80cf-8b93c38e6a85

DOI

10.1101/2023.06.22.546054