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 22 publications over 17 distinct years, with a maximum of 3 publications in 2005

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

Year	Major Topic	Minor Topic	Total
2002	0	1	1
2004	1	0	1
2005	3	0	3
2007	1	0	1
2008	1	0	1
2009	2	0	2
2010	1	0	1
2011	1	1	2
2013	1	0	1
2014	2	0	2
2015	1	0	1
2016	1	0	1
2018	1	0	1
2019	1	0	1
2020	0	1	1
2022	1	0	1
2023	1	0	1

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

Sturm G, Karan KR, Monzel AS, Santhanam B, Taivassalo T, Bris C, Ware SA, Cross M, Towheed A, Higgins-Chen A, McManus MJ, Cardenas A, Lin J, Epel ES, Rahman S, Vissing J, Grassi B, Levine M, Horvath S, Haller RG, Lenaers G, Wallace DC, St-Onge MP, Tavazoie S, Procaccio V, Kaufman BA, Seifert EL, Hirano M, Picard M. OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases. Commun Biol. 2023 Jan 12; 6(1):22.

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Kucherov V, Truong H, Raab C, Hagerty JA. Urologic Presentations and Management Options in Pediatric Mitochondrial Disease. Urology. 2022 06; 164:230-237.

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Hwang MS, Britt CJ, Vila PM, Dang RP, Fleming SI, Patel AM, Paniello RC, Rich JT, Hanasono MM, Desai SC. Factors associated with skin graft take in fibula and radial forearm free flap donor sites. Am J Otolaryngol. 2020 Jul - Aug; 41(4):102536.

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Weiss SL, Zhang D, Bush J, Graham K, Starr J, Tuluc F, Henrickson S, Kilbaugh T, Deutschman CS, Murdock D, McGowan FX, Becker L, Wallace DC. Persistent Mitochondrial Dysfunction Linked to Prolonged Organ Dysfunction in Pediatric Sepsis. Crit Care Med. 2019 10; 47(10):1433-1441.

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Nikam RM, Gripp KW, Choudhary AK, Kandula V. Imaging phenotype of multiple mitochondrial dysfunction syndrome 2, a rare BOLA3-associated leukodystrophy. Am J Med Genet A. 2018 12; 176(12):2787-2790.

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Kang E, Wu J, Gutierrez NM, Koski A, Tippner-Hedges R, Agaronyan K, Platero-Luengo A, Martinez-Redondo P, Ma H, Lee Y, Hayama T, Van Dyken C, Wang X, Luo S, Ahmed R, Li Y, Ji D, Kayali R, Cinnioglu C, Olson S, Jensen J, Battaglia D, Lee D, Wu D, Huang T, Wolf DP, Temiakov D, Belmonte JC, Amato P, Mitalipov S. Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. Nature. 2016 12 08; 540(7632):270-275.

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Weiss SL, Selak MA, Tuluc F, Perales Villarroel J, Nadkarni VM, Deutschman CS, Becker LB. Mitochondrial dysfunction in peripheral blood mononuclear cells in pediatric septic shock. Pediatr Crit Care Med. 2015 Jan; 16(1):e4-e12.

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Maria BL. Mitochondrial disease: current understanding and future directions. J Child Neurol. 2014 Sep; 29(9):1177-8.

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Thornton B, Cohen B, Copeland W, Maria BL. Mitochondrial disease: clinical aspects, molecular mechanisms, translational science, and clinical frontiers. J Child Neurol. 2014 Sep; 29(9):1179-207.

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Carvalho KS. Mitochondrial dysfunction in demyelinating diseases. Semin Pediatr Neurol. 2013 Sep; 20(3):194-201.

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