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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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 Respiratory Chain Deficiencies, Mitochondrial Respiratory Chain Deficiencies, Mitochondrial Deficiencies, Respiratory Chain Deficiency, Respiratory Chain Respiratory Chain Deficiency Mitochondrial Respiratory Chain Deficiencies Electron Transport Chain Deficiencies, Mitochondrial Electron Transport Chain Deficiencies, Mitochondrial Mitochondrial Electron Transport Chain Deficiencies

Below are MeSH descriptors whose meaning is more general than "Mitochondrial Diseases".

Diseases [C]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Mitochondrial Diseases [C18.452.660]

Below are MeSH descriptors whose meaning is more specific than "Mitochondrial Diseases".

publications

Timeline | Most Recent

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.

Bar chart showing 18 publications over 11 distinct years, with a maximum of 4 publications in 2011

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
2002	0	1	1
2006	2	0	2
2008	1	1	2
2009	2	0	2
2011	4	0	4
2012	1	0	1
2013	1	0	1
2014	1	0	1
2015	2	0	2
2017	1	0	1
2021	0	1	1

Below are the most recent publications written about "Mitochondrial Diseases" by people in Profiles.

Perron NR, Nasarre C, Bandyopadhyay M, Beeson CC, Rohrer B. SAHA is neuroprotective in in vitro and in situ models of retinitis pigmentosa. Mol Vis. 2021; 27:151-160.

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Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF. Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2017 12; 19(12).

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Whitaker RM, Corum D, Beeson CC, Schnellmann RG. Mitochondrial Biogenesis as a Pharmacological Target: A New Approach to Acute and Chronic Diseases. Annu Rev Pharmacol Toxicol. 2016; 56:229-49.

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Bestman JE, Stackley KD, Rahn JJ, Williamson TJ, Chan SS. The cellular and molecular progression of mitochondrial dysfunction induced by 2,4-dinitrophenol in developing zebrafish embryos. Differentiation. 2015 Mar-Apr; 89(3-4):51-69.

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Ghosh A, Trivedi PP, Timbalia SA, Griffin AT, Rahn JJ, Chan SS, Gohil VM. Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency. Hum Mol Genet. 2014 Jul 01; 23(13):3596-606.

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Kim SH, Scott SA, Bennett MJ, Carson RP, Fessel J, Brown HA, Ess KC. Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency. PLoS Genet. 2013 Jun; 9(6):e1003563.

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Blankenberg FG, Kinsman SL, Cohen BH, Goris ML, Spicer KM, Perlman SL, Krane EJ, Kheifets V, Thoolen M, Miller G, Enns GM. Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease. Mol Genet Metab. 2012 Dec; 107(4):690-9.

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Enns GM, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, Amagata A, Barnes A, Kheifets V, Shrader WD, Thoolen M, Blankenberg F, Miller G. Initial experience in the treatment of inherited mitochondrial disease with EPI-743. Mol Genet Metab. 2012 Jan; 105(1):91-102.

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Zhang L, Chan SS, Wolff DJ. Mitochondrial disorders of DNA polymerase ? dysfunction: from anatomic to molecular pathology diagnosis. Arch Pathol Lab Med. 2011 Jul; 135(7):925-34.

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Otte DM, Sommersberg B, Kudin A, Guerrero C, Albayram O, Filiou MD, Frisch P, Yilmaz O, Drews E, Turck CW, Bilkei-Gorzó A, Kunz WS, Beck H, Zimmer A. 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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