"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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2003 | 1 | 2 | 3 |
| 2004 | 1 | 0 | 1 |
| 2005 | 1 | 0 | 1 |
| 2007 | 0 | 1 | 1 |
| 2010 | 1 | 0 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2014 | 2 | 0 | 2 |
| 2015 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2021 | 2 | 0 | 2 |
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Below are the most recent publications written about "Mitochondrial Diseases" by people in Profiles.
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Mitochondrial Retinopathy. Ophthalmol Retina. 2022 01; 6(1):65-79.
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Haematological characteristics and spontaneous haematological recovery in Pearson syndrome. Br J Haematol. 2021 06; 193(6):1283-1287.
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Retinoencephalopathy with occipital lobe epilepsy in an OPA-1 mutation carrier. Seizure. 2019 Mar; 66:1-3.
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Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging. Cell Metab. 2015 May 05; 21(5):667-77.
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Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease. Hum Mol Genet. 2014 Dec 01; 23(23):6147-62.
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Loss of UCP2 attenuates mitochondrial dysfunction without altering ROS production and uncoupling activity. PLoS Genet. 2014 Jun; 10(6):e1004385.
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Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet. 2013 Feb; 45(2):214-9.
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A novel mtDNA large-scale mutation clinically exclusively presenting with refractory anemia: is there a chance to predict disease progression? J Pediatr Hematol Oncol. 2012 May; 34(4):283-92.
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N-acetyl cysteine treatment rescues cognitive deficits induced by mitochondrial dysfunction in G72/G30 transgenic mice. Neuropsychopharmacology. 2011 Oct; 36(11):2233-43.
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Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene. Neurology. 2010 Feb 09; 74(6):507-12.
MeSH information
