 Mitochondrial Diseases
"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
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| MeSH Number(s) |
C18.452.660
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| 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
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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 |
|---|
| 2013 | 1 | 0 | 1 | | 2015 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Mitochondrial Diseases" by people in Profiles.
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Shayota BJ, Le NT, Bekheirnia N, Rosenfeld JA, Goldstein AC, Moritz M, Bartholomew DW, Pastore MT, Xia F, Eng C, Yang Y, Lamb DJ, Scaglia F, Braun MC, Bekheirnia MR. Characterization of the renal phenotype in RMND1-related mitochondrial disease. Mol Genet Genomic Med. 2019 12; 7(12):e973.
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Kernohan KD, Dyment DA, Pupavac M, Cramer Z, McBride A, Bernard G, Straub I, Tetreault M, Hartley T, Huang L, Sell E, Majewski J, Rosenblatt DS, Shoubridge E, Mhanni A, Myers T, Proud V, Vergano S, Spangler B, Farrow E, Kussman J, Safina N, Saunders C, Boycott KM, Thiffault I. Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. Hum Mutat. 2017 05; 38(5):511-516.
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Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, Kingsmore SF, Ostergaard E. CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. Am J Hum Genet. 2015 Feb 05; 96(2):258-65.
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Dinwiddie DL, Smith LD, Miller NA, Atherton AM, Farrow EG, Strenk ME, Soden SE, Saunders CJ, Kingsmore SF. Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. Genomics. 2013 Sep; 102(3):148-56.
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