Evidence map›Paper›PMID 38951641›Full record

ReviewNature genetics2024

Mitochondrial genetics through the lens of single-cell multi-omics.

Lena Nitsch, Caleb A Lareau, Leif S Ludwig

Abstract readReview
In one paragraph

Review in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.

0numbers the graph read from it
0cells of the map it votes in
29citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

29 citing papers in PubMed.

  1. Review
  2. Mitophagy coordinates organelle crosstalk in health and diseases.Signal transduction and targeted therapy · 2026
    Review
  3. OPA1 controls mitochondrial dysfunction-driven liver fibrosis in MASLD.bioRxiv : the preprint server for biology · 2026
    Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Review
  9. Review
  10. Review
  11. Article
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  13. Review
  14. Review
  15. Article
  16. Review
  17. Review
  18. Article
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  20. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

3 authors.

Lena NitschBerlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany.
Caleb A LareauComputational and Systems Biology Program, Memorial Sloan Kettering Cancer Center, New York, NY, USA. lareauc@mskcc.org.
Leif S LudwigBerlin Institute of Health at Charité Universitätsmedizin Berlin, Berlin, Germany. leif.ludwig@bih-charite.de.

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Single-cell Mapping Center for Human Regulatory Elements and Gene ActivityUM1HG012076 · NHGRI · STANFORD UNIVERSITY · PI Michael Ryan Corces, Ansuman Satpathy · 2021 to 2026
$13.8M
Charting somatic evolution via single-cell multiomicsR00HG012579 · NHGRI · SLOAN-KETTERING INST CAN RESEARCH · PI LAREAU, CALEB ANDREW · 2023 to 2025
$747k
Charting somatic evolution via single-cell multiomicsK99HG012579 · NHGRI · STANFORD UNIVERSITY · PI LAREAU, CALEB ANDREW · 2022 to 2022
$119k
Deutsche Forschungsgemeinschaft (German Research Foundation) LU 2336/2-1Deutsche Forschungsgemeinschaft (German Research Foundation) LU 2336/3-1Deutsche Forschungsgemeinschaft (German Research Foundation) LU 2336/6-1Deutsche Forschungsgemeinschaft (German Research Foundation) LU 2336/9-1Deutsche Forschungsgemeinschaft (German Research Foundation) SFB1588Deutsche Forschungsgemeinschaft (German Research Foundation) STA 1586/5-1European Molecular Biology Organization (EMBO) Young InvestigatorHector Fellow Academy n/aNCI NIH HHS P30 CA008748NHGRI NIH HHS K99 HG012579NHGRI NIH HHS R00 HG012579NHGRI NIH HHS UM1 HG012076U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute (NHGRI) HG012579
6 · The paper itself

Abstract

Mitochondria carry their own genetic information encoding for a subset of protein-coding genes and translational machinery essential for cellular respiration and metabolism. Despite its small size, the mitochondrial genome, its natural genetic variation and molecular phenotypes have been challenging to study using bulk sequencing approaches, due to its variation in cellular copy number, non-Mendelian modes of inheritance and propensity for mutations. Here we highlight emerging strategies designed to capture mitochondrial genetic variation across individual cells for lineage tracing and studying mitochondrial genetics in primary human cells and clinical specimens. We review recent advances surrounding single-cell mitochondrial genome sequencing and its integration with functional genomic readouts, including leveraging somatic mitochondrial DNA mutations as clonal markers that can resolve cellular population dynamics in complex human tissues. Finally, we discuss how single-cell whole mitochondrial genome sequencing approaches can be utilized to investigate mitochondrial genetics and its contribution to cellular heterogeneity and disease.

Indexed as

DNA, MitochondrialGenome, MitochondrialMitochondriaSingle-Cell AnalysisAnimalsGenetic VariationGenomicsHumansMultiomicsMutationDNA, Mitochondrial

Identifiers

PMID38951641
PMCPMC11260401

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.