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 11 publications over 8 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
2004	1	0	1
2005	3	0	3
2009	2	0	2
2010	1	0	1
2016	1	0	1
2019	0	1	1
2020	0	1	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.

View in: PubMed
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.

View in: PubMed
Yin C, Liu Y, Guo X, Li D, Fang W, Yang J, Zhou F, Niu W, Jia Y, Yang H, Xing J. An Effective Strategy to Eliminate Inherent Cross-Contamination in mtDNA Next-Generation Sequencing of Multiple Samples. J Mol Diagn. 2019 07; 21(4):593-601.

View in: PubMed
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.

View in: PubMed
Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, Goto Y. Reversible infantile respiratory chain deficiency: a clinical and molecular study. Ann Neurol. 2010 Dec; 68(6):845-54.

View in: PubMed
Di Fonzo A, Ronchi D, Lodi T, Fassone E, Tigano M, Lamperti C, Corti S, Bordoni A, Fortunato F, Nizzardo M, Napoli L, Donadoni C, Salani S, Saladino F, Moggio M, Bresolin N, Ferrero I, Comi GP. The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency. Am J Hum Genet. 2009 May; 84(5):594-604.

View in: PubMed
Ingraham CA, Burwell LS, Skalska J, Brookes PS, Howell RL, Sheu SS, Pinkert CA. NDUFS4: creation of a mouse model mimicking a Complex I disorder. Mitochondrion. 2009 Jun; 9(3):204-10.

View in: PubMed
Sheu SS, Nauduri D, Anders MW. Targeting antioxidants to mitochondria: a new therapeutic direction. Biochim Biophys Acta. 2006 Feb; 1762(2):256-65.

View in: PubMed
Yasukawa T, Kirino Y, Ishii N, Holt IJ, Jacobs HT, Makifuchi T, Fukuhara N, Ohta S, Suzuki T, Watanabe K. Wobble modification deficiency in mutant tRNAs in patients with mitochondrial diseases. FEBS Lett. 2005 May 23; 579(13):2948-52.

View in: PubMed
Kirino Y, Suzuki T. Human mitochondrial diseases associated with tRNA wobble modification deficiency. RNA Biol. 2005 Apr; 2(2):41-4.

View in: PubMed

People

Explore

Similar Concepts

Top Journals

The Thomas Jefferson University web site, its contents and programs, is provided for informational and educational purposes only and is not intended as medical advice nor is it intended to create any physician-patient relationship. Please remember that this information should not substitute for a visit or a consultation with a health care provider. The views or opinions expressed in the resources provided do not necessarily reflect those of Thomas Jefferson University, Thomas Jefferson University Hospital, or the Jefferson Health System or staff.
Please read our Privacy Statement