Evidence map›Paper›PMID 39185646›Full record

ReviewCurrent medicinal chemistry2025

Analysis of Mutational Burden of Mitochondrial Genome in Cells of Different Human Organs and Tissues.

Margarita A Sazonova, Vasily V Sinyov, Anastasia I Ryzhkova, Marina D Sazonova, Natalya A Doroschuk, Vasily P Karagodin, Mikhail A Popov, Vasily N Sukhorukov, Paolo Poggio, Donato Moschetta and 1 more

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In one paragraph

Review in Current medicinal chemistry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. A rareTranslational pediatrics · 2025
    Article
  2. Article
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

11 authors.

Margarita A SazonovaLaboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 8 Baltiiskaya Street, Moscow, 125315, Russia.ORCID 0000-0002-8610-4593
Vasily V SinyovLaboratory of Medical Genetics, Medical Research Center of Cardiology, Institute of Experimental Cardiology, 15a, 3rd Cherepkovskaya Str., Moscow, 121552, Russia.ORCID 0000-0001-5105-5763
Anastasia I RyzhkovaLaboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 8 Baltiiskaya Street, Moscow, 125315, Russia.ORCID 0000-0002-8838-7750
Marina D SazonovaLaboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 8 Baltiiskaya Street, Moscow, 125315, Russia.ORCID 0009-0005-4049-0758
Natalya A DoroschukLaboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 8 Baltiiskaya Street, Moscow, 125315, Russia.ORCID 0000-0003-2258-6463
Vasily P KaragodinLaboratory of Angiopathology, Institute of General Pathology and Pathophysiology, 8 Baltiiskaya Street, Moscow, 125315, Russia.ORCID 0000-0003-0501-8499
Mikhail A PopovDepartment of Cardiac Surgery, Moscow Regional Research and Clinical Institute ("MONIKI"), 61/2, Shchepkin St., Moscow, 129110, Russia.ORCID 0000-0002-0316-8410
Vasily N SukhorukovLaboratory of Cellular and Molecular Pathology of Cardiovascular System, Federal State Budgetary Scientific Institution, Petrovsky National Research Centre of Surgery (FSBSI "Petrovsky NRCS"), Moscow, Russia.ORCID 0000-0002-0312-3773
Paolo PoggioUnit for the Study of Aortic, Valvular and Coronary Pathologies Centro Cardiologico Monzino, IRCCS.Via C. Parea, 4, Milano, 20138, Italy.ORCID 0000-0002-7225-3379
Donato MoschettaUnit for the Study of Aortic, Valvular and Coronary Pathologies Centro Cardiologico Monzino, IRCCS.Via C. Parea, 4, Milano, 20138, Italy.ORCID 0000-0002-7746-8539
Anton Yu PostnovLaboratory of Medical Genetics, Medical Research Center of Cardiology, Institute of Experimental Cardiology, 15a, 3rd Cherepkovskaya Str., Moscow, 121552, Russia.ORCID 0000-0002-2501-7269

Funding

Russian Science Foundation 20-15-00337
6 · The paper itself

Abstract

backgroundCells of different human organs and tissues contain different numbers of mitochondria. In these organelles, there are different copies of the mitochondrial genome, which is characteristic of a certain organ or tissue.

objectiveThe aim of the investigation was to analyze the results of scientific works dedicated to the analysis of heteroplasmy levels of mitochondrial genome mutations in a number of organs and tissues.

methodsBased on literature data, the level of heteroplasmy of mitochondrial genome mutations was analyzed in organs such as the liver, lungs, muscles, small intestine, large intestine, spleen, kidney, brain, heart, and hair. In addition, this parameter was studied in such tissues as leukocytes, buccal epithelium, and epithelial cells from urine.

resultsSignificant differences in the mutational burden of the mitochondrial genome were found in various samples of organs and tissues. The highest heteroplasmy level for mtDNA mutations was in muscles; it was lower in buccal epithelium; and in human blood cells, the heteroplasmy level of mitochondrial mutations turned out to be significantly lower compared to other tissues. During the comparison of samples of patients with different diseases and healthy people, significant differences were found in the heteroplasmy level between some organs and tissues.

conclusionThe heteroplasmy level of mitochondrial genome mutations can significantly differ in the organs and tissues of individuals. In addition, in a number of literature sources, it is noted that there is a dependence on the mutational burden of the mitochondrial genome from the type of disease, sex, and age of a person.

Indexed as

DNA, MitochondrialGenome, MitochondrialMutationHeteroplasmyHumansOrgan SpecificityDNA, Mitochondrialcells.heteroplasmy levelhuman organhuman tissueMitochondrial genomemutationmutational burden

Identifiers

PMID39185646

What OpenQuestion holds

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Registered trials

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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.