 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 |
|---|
| 2002 | 1 | 0 | 1 | | 2003 | 1 | 0 | 1 | | 2004 | 1 | 0 | 1 | | 2007 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 | | 2009 | 2 | 0 | 2 | | 2010 | 3 | 1 | 4 | | 2011 | 1 | 1 | 2 | | 2012 | 1 | 0 | 1 | | 2013 | 3 | 0 | 3 | | 2014 | 2 | 0 | 2 | | 2015 | 2 | 0 | 2 | | 2016 | 2 | 1 | 3 | | 2017 | 1 | 1 | 2 | | 2018 | 3 | 0 | 3 | | 2020 | 3 | 0 | 3 | | 2021 | 4 | 0 | 4 |
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Below are the most recent publications written about "Mitochondrial Diseases" by people in Profiles.
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Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK. Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab. 2021 08; 133(4):362-371.
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Pendleton AL, Wesolowski SR, Regnault TRH, Lynch RM, Limesand SW. Dimming the Powerhouse: Mitochondrial Dysfunction in the Liver and Skeletal Muscle of Intrauterine Growth Restricted Fetuses. Front Endocrinol (Lausanne). 2021; 12:612888.
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Sturrock BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J, Tifft CJ, Gordon-Lipkin E. Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum. Mol Genet Genomic Med. 2021 06; 9(6):e1692.
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Facchinello N, Laquatra C, Locatello L, Beffagna G, Brañas Casas R, Fornetto C, Dinarello A, Martorano L, Vettori A, Risato G, Celeghin R, Meneghetti G, Santoro MM, Delahodde A, Vanzi F, Rasola A, Dalla Valle L, Rasotto MB, Lodi T, Baruffini E, Argenton F, Tiso N. Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish. Cell Death Dis. 2021 01 19; 12(1):100.
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Knight KM, Shelkowitz E, Larson AA, Mirsky DM, Wang Y, Chen T, Wong LJ, Friederich MW, Van Hove JLK. The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome. Mitochondrion. 2020 11; 55:8-13.
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Jestin M, Kapnick SM, Tarasenko TN, Burke CT, Zerfas PM, Diaz F, Vernon H, Singh LN, Sokol RJ, McGuire PJ. Mitochondrial disease disrupts hepatic allostasis and lowers the threshold for immune-mediated liver toxicity. Mol Metab. 2020 07; 37:100981.
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Birjiniuk A, Glinton KE, Villafranco N, Boyer S, Laufman J, Mizerik E, Scott D, Elsea SH, Galambos C, Varghese NP, Scaglia F. Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Am J Med Genet A. 2020 04; 182(4):755-761.
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Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018 10 03; 9(1):4065.
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Raman S, Chentouf L, DeVile C, Peters MJ, Rahman S. Near infrared spectroscopy with a vascular occlusion test as a biomarker in children with mitochondrial and other neuro-genetic disorders. PLoS One. 2018; 13(7):e0199756.
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Starr MC, Chang IJ, Finn LS, Sun A, Larson AA, Goebel J, Hanevold C, Thies J, Van Hove JLK, Hingorani SR, Lam C. COQ2 nephropathy: a treatable cause of nephrotic syndrome in children. Pediatr Nephrol. 2018 07; 33(7):1257-1261.
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