"Mitochondrial Diseases" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
| Descriptor ID |
D028361
|
| MeSH Number(s) |
C18.452.660
|
| Concept/Terms |
Mitochondrial Diseases- Mitochondrial Diseases
- Disease, Mitochondrial
- Mitochondrial Disease
- Mitochondrial Disorders
- Disorder, Mitochondrial
- Disorders, Mitochondrial
- Mitochondrial Disorder
Oxidative Phosphorylation Deficiencies- Oxidative Phosphorylation Deficiencies
- Deficiencies, Oxidative Phosphorylation
- Deficiency, Oxidative Phosphorylation
- Oxidative Phosphorylation Deficiency
- Phosphorylation Deficiencies, Oxidative
- Phosphorylation Deficiency, Oxidative
|
Below are MeSH descriptors whose meaning is more general than "Mitochondrial Diseases".
Below are MeSH descriptors whose meaning is more specific than "Mitochondrial Diseases".
This graph shows the total number of publications written about "Mitochondrial Diseases" by people in this website by year, and whether "Mitochondrial Diseases" was a major or minor topic of these publications.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2002 | 1 | 1 | 2 |
| 2003 | 1 | 0 | 1 |
| 2004 | 3 | 0 | 3 |
| 2006 | 2 | 0 | 2 |
| 2007 | 1 | 0 | 1 |
| 2008 | 2 | 1 | 3 |
| 2009 | 2 | 1 | 3 |
| 2010 | 5 | 0 | 5 |
| 2011 | 4 | 1 | 5 |
| 2012 | 3 | 0 | 3 |
| 2013 | 6 | 0 | 6 |
| 2014 | 1 | 0 | 1 |
| 2015 | 5 | 0 | 5 |
| 2016 | 3 | 1 | 4 |
| 2017 | 5 | 0 | 5 |
| 2018 | 5 | 0 | 5 |
| 2019 | 3 | 1 | 4 |
| 2020 | 5 | 0 | 5 |
| 2021 | 1 | 0 | 1 |
| 2022 | 4 | 0 | 4 |
| 2024 | 4 | 2 | 6 |
| 2025 | 6 | 2 | 8 |
| 2026 | 2 | 1 | 3 |
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Below are the most recent publications written about "Mitochondrial Diseases" by people in Profiles.
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Multi-generational mitochondrial complex V deficiency due to the recurrent ATP5F1A c.620G>A?(p.Arg207His) pathogenic variant: A novel family and a review of the literature. Mol Genet Metab. 2026 Sep-Oct; 149(1-2):110207.
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COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy. Nat Commun. 2026 May 30; 17(1).
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Outcomes of kidney transplantation in three patients with single large-scale mitochondrial DNA deletion syndromes. Mol Genet Metab. 2026 Mar; 147(3):109731.
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Detecting mitochondrial electron transport chain enzyme defects in low-heteroplasmy single large-scale mtDNA deletion syndromes (SLSMDSs). Mol Genet Metab. 2025 Nov; 146(3):109260.
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ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation. Cell Rep. 2025 Sep 23; 44(9):116230.
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SLC25A42-Related Mitochondrial Disorder: New Cases and Literature Review. Clin Genet. 2026 01; 109(1):77-85.
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Coenzyme Q headgroup intermediates can ameliorate a mitochondrial encephalopathy. Nature. 2025 09; 645(8080):466-474.
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A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder. Am J Med Genet A. 2025 11; 197(11):e64177.
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Spectrum of clinical neuroimaging in mitochondrial disorders: a neuroanatomical approach. Pediatr Radiol. 2025 06; 55(7):1350-1365.
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Atrial cardiomyocyte-restricted cleavage of gasdermin D promotes atrial arrhythmogenesis. Eur Heart J. 2025 Apr 01; 46(13):1250-1262.