ArticleScientific reports2020
High throughput single cell analysis of mitochondrial heteroplasmy in mitochondrial diseases.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 88 citations in OpenAlex.
- Single-cell Omics Assessment of Mitochondrial Function: Current Status and Future Perspectives.Genomics, proteomics & bioinformatics · 2026Review
- Single-mitochondrion sequencing uncovers distinct mutational patterns and heteroplasmy landscape in mouse astrocytes and neurons.BMC biology · 2024Article
- Single-Mitochondrion Sequencing Uncovers Distinct Mutational Patterns and Heteroplasmy Landscape in Mouse Astrocytes and Neurons.bioRxiv : the preprint server for biology · 2024Article
- Digital PCR for Single-Cell Analysis.Biosensors · 2024Review
- A complete workflow for single cell mtDNAseq in CHO cells, from cell culture to bioinformatic analysis.Frontiers in bioengineering and biotechnology · 2024Article
- MtDNA deletions and aging.Frontiers in aging · 2024Review
- Mitochondrial heterogeneity in diseases.Signal transduction and targeted therapy · 2023Review
- Evaluation of endpoints for the study and diagnosis of mitochondrial toxicity and disease: a narrative review.Mutagenesis · 2023Review
- A method for multiplexed full-length single-molecule sequencing of the human mitochondrial genome.Nature communications · 2022Article
- Article
- Role of the mtDNA Mutations and Mitophagy in Inflammaging.International journal of molecular sciences · 2022Review
- The Complicated Nature of Somatic mtDNA Mutations in Aging.Frontiers in aging · 2022Article
- mtDNA Heteroplasmy: Origin, Detection, Significance, and Evolutionary Consequences.Life (Basel, Switzerland) · 2021Review
- Confirming putative variants at ≤ 5% allele frequency using allele enrichment and Sanger sequencing.Scientific reports · 2021Article
- Engineering Genetic Systems for Treating Mitochondrial Diseases.Pharmaceutics · 2021Review
- Generation of somatic mitochondrial DNA-replaced cells for mitochondrial dysfunction treatment.Scientific reports · 2021Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial heteroplasmy, which fundamentally means intracellular heterogeneity of mitochondrial DNA (mtDNA), has been measured in a group of cells, regardless of intercellular heterogeneity. Ordinal methods for mitochondrial heteroplasmy cannot discriminate between an intercellular homogenic population composed of cells with similar intracellular heterogeneity for mtDNA and an intercellular heterogenic population composed of cells with different rates of mutated mtDNA. A high-throughput method to determine mitochondrial heteroplasmy in a single cell was developed by using droplet digital PCR with TaqMan polymerase in this study. This technique revealed that there are three different cell populations of cultured fibroblasts derived from patients with mitochondrial disease carrying a mutation in the mtDNA; cells with homoplasmy of either mutated or healthy mtDNA; and cells mixed with mutated and healthy mtDNA. The presence of intercellular heterogeneity, even in uniformed cultured fibroblasts, suggests that heterogeneity should exist among different kinds of cells. The diagnosis of intercellular heterogeneity with respect to mitochondrial heteroplasmy by this methodology could provide novel insight into developing a treatment strategy for mitochondrial diseases.
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