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 UAMS Profiles 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 |
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2023 | 3 | 0 | 3 | 2022 | 1 | 0 | 1 | 2021 | 6 | 1 | 7 | 2020 | 5 | 0 | 5 | 2019 | 6 | 0 | 6 | 2018 | 6 | 1 | 7 | 2017 | 5 | 0 | 5 | 2016 | 8 | 0 | 8 | 2015 | 5 | 1 | 6 | 2014 | 6 | 2 | 8 | 2013 | 6 | 2 | 8 | 2012 | 5 | 2 | 7 | 2011 | 3 | 0 | 3 | 2010 | 2 | 1 | 3 | 2009 | 3 | 1 | 4 | 2008 | 3 | 0 | 3 | 2007 | 2 | 0 | 2 | 2006 | 2 | 0 | 2 | 2005 | 3 | 0 | 3 | 2004 | 1 | 0 | 1 | 2002 | 0 | 1 | 1 |
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Below are the most recent publications written about "Mitochondrial Diseases" by people in Profiles over the past ten years.
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Bose C, Kshirsagar S, Vijayan M, Kumar S, Singh SP, Hindle A, Reddy PH. The role of RLIP76 in oxidative stress and mitochondrial dysfunction: Evidence based on autopsy brains from Alzheimer's disease patients. Biochim Biophys Acta Mol Basis Dis. 2024 02; 1870(2):166932.
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Deen D, Alston CL, Hudson G, Taylor RW, Pyle A. Genomic Strategies in Mitochondrial Diagnostics. Methods Mol Biol. 2023; 2615:397-425.
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Thompson K, Stroud DA, Thorburn DR, Taylor RW. Investigation of oxidative phosphorylation activity and complex composition in mitochondrial disease. Handb Clin Neurol. 2023; 194:127-139.
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Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS. Forecasting stroke-like episodes and outcomes in mitochondrial disease. Brain. 2022 04 18; 145(2):542-554.
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Tang JX, Pyle A, Taylor RW, Ol?hov? M. Interrogating Mitochondrial Biology and Disease Using CRISPR/Cas9 Gene Editing. Genes (Basel). 2021 10 12; 12(10).
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Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM. Mitochondrial disease in adults: recent advances and future promise. Lancet Neurol. 2021 07; 20(7):573-584.
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Bakare AB, Daniel J, Stabach J, Rojas A, Bell A, Henry B, Iyer S. Quantifying Mitochondrial Dynamics in Patient Fibroblasts with Multiple Developmental Defects and Mitochondrial Disorders. Int J Mol Sci. 2021 Jun 10; 22(12).
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Baty K, Farrugia ME, Hopton S, Falkous G, Schaefer AM, Stewart W, Willison HJ, Reilly MM, Blakely EL, Taylor RW, Ng YS. A novel MT-CO2 variant causing cerebellar ataxia and neuropathy: The role of muscle biopsy in diagnosis and defining pathogenicity. Neuromuscul Disord. 2021 11; 31(11):1186-1193.
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Alston CL, Stenton SL, Hudson G, Prokisch H, Taylor RW. The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines. J Pathol. 2021 07; 254(4):430-442.
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Horga A, Manole A, Mitchell AL, Bugiardini E, Hargreaves IP, Mowafi W, Bettencourt C, Blakely EL, He L, Polke JM, Woodward CE, Dalla Rosa I, Shah S, Pittman AM, Quinlivan R, Reilly MM, Taylor RW, Holt IJ, Hanna MG, Pitceathly RDS, Spinazzola A, Houlden H. Uniparental isodisomy of chromosome 2 causing MRPL44-related multisystem mitochondrial disease. Mol Biol Rep. 2021 Mar; 48(3):2093-2104.
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Al Saadi T, Assaf Y, Farwati M, Turkmani K, Al-Mouakeh A, Shebli B, Khoja M, Essali A, Madmani ME. Coenzyme Q10 for heart failure. Cochrane Database Syst Rev. 2021 02 03; (2):CD008684.
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Warren C, McDonald D, Capaldi R, Deehan D, Taylor RW, Filby A, Turnbull DM, Lawless C, Vincent AE. Decoding mitochondrial heterogeneity in single muscle fibres by imaging mass cytometry. Sci Rep. 2020 09 18; 10(1):15336.
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Lujan SA, Longley MJ, Humble MH, Lavender CA, Burkholder A, Blakely EL, Alston CL, Gorman GS, Turnbull DM, McFarland R, Taylor RW, Kunkel TA, Copeland WC. Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging. Genome Biol. 2020 09 17; 21(1):248.
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Frye RE. Mitochondrial Dysfunction in Autism Spectrum Disorder: Unique Abnormalities and Targeted Treatments. Semin Pediatr Neurol. 2020 10; 35:100829.
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Alston CL, Blakely EL, McFarland R, Taylor RW. The m.15043G?>?A MT-CYB variant is not a pathogenic mtDNA variant. J Neurol Sci. 2020 10 15; 417:116950.
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Gunning AC, Strucinska K, Mu?oz Oreja M, Parrish A, Caswell R, Stals KL, Durigon R, Durlacher-Betzer K, Cunningham MH, Grochowski CM, Baptista J, Tysoe C, Baple E, Lahiri N, Homfray T, Scurr I, Armstrong C, Dean J, Fernandez Pelayo U, Jones AWE, Taylor RW, Misra VK, Yoon WH, Wright CF, Lupski JR, Spinazzola A, Harel T, Holt IJ, Ellard S. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism. Am J Hum Genet. 2020 02 06; 106(2):272-279.
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Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW. Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. Am J Hum Genet. 2020 01 02; 106(1):92-101.
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Owen AM, Patel SP, Smith JD, Balasuriya BK, Mori SF, Hawk GS, Stromberg AJ, Kuriyama N, Kaneki M, Rabchevsky AG, Butterfield TA, Esser KA, Peterson CA, Starr ME, Saito H. Chronic muscle weakness and mitochondrial dysfunction in the absence of sustained atrophy in a preclinical sepsis model. Elife. 2019 12 03; 8.
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Pula S, Urankar K, Norman A, Pierre G, Langton-Hewer S, Selby V, Mason F, Vijayakumar K, McFarland R, Taylor RW, Majumdar A. A novel de novo ACTA1 variant in a patient with nemaline myopathy and mitochondrial Complex I deficiency. Neuromuscul Disord. 2020 02; 30(2):159-164.
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Ol?hov? M, Ceccatelli Berti C, Collier JJ, Alston CL, Jameson E, Jones SA, Edwards N, He L, Chinnery PF, Horvath R, Goffrini P, Taylor RW, Sayer JA. Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease. Hum Mol Genet. 2019 11 15; 28(22):3766-3776.
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Boggan RM, Lim A, Taylor RW, McFarland R, Pickett SJ. Resolving complexity in mitochondrial disease: Towards precision medicine. Mol Genet Metab. 2019 Sep - Oct; 128(1-2):19-29.
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Lehmann D, Tuppen HAL, Campbell GE, Alston CL, Lawless C, Rosa HS, Rocha MC, Reeve AK, Nicholls TJ, Deschauer M, Zierz S, Taylor RW, Turnbull DM, Vincent AE. Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level. Nucleic Acids Res. 2019 08 22; 47(14):7430-7443.
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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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Rose S, Niyazov DM, Rossignol DA, Goldenthal M, Kahler SG, Frye RE. Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder. Mol Diagn Ther. 2018 10; 22(5):571-593.
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Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bj?rnstad A, Henneke L, G?rtner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW. Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. Am J Hum Genet. 2018 10 04; 103(4):592-601.
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Samanta D, Gokden M, Willis E. Clinicopathologic Findings of CARS2 Mutation. Pediatr Neurol. 2018 10; 87:65-69.
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Wang J, Kim E, Dai H, Stefans V, Vogel H, Al Jasmi F, Schrier Vergano SA, Castro D, Bernes S, Bhambhani V, Long C, El-Hattab AW, Wong LJ. Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect. Mol Genet Metab. 2018 06; 124(2):124-130.
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Rose S, Bennuri SC, Davis JE, Wynne R, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF, Frye RE. Butyrate enhances mitochondrial function during oxidative stress in cell lines from boys with autism. Transl Psychiatry. 2018 02 02; 8(1):42.
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Rocha MC, Rosa HS, Grady JP, Blakely EL, He L, Romain N, Haller RG, Newman J, McFarland R, Ng YS, Gorman GS, Schaefer AM, Tuppen HA, Taylor RW, Turnbull DM. Pathological mechanisms underlying single large-scale mitochondrial DNA deletions. Ann Neurol. 2018 01; 83(1):115-130.
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Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G, Ol?hov? M, McFarland R, Turnbull DM, Rocha MC, Taylor RW. Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency. Sci Rep. 2017 Nov 15; 7(1):15676.
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Glasgow RIC, Thompson K, Barbosa IA, He L, Alston CL, Deshpande C, Simpson MA, Morris AAM, Neu A, L?bel U, Hall J, Prokisch H, Haack TB, Hempel M, McFarland R, Taylor RW. Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits. Neurogenetics. 2017 Dec; 18(4):227-235.
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Alfadhel M, Nashabat M, Alrifai MT, Alshaalan H, Al Mutairi F, Al-Shahrani SA, Plecko B, Almass R, Alsagob M, Almutairi FB, Al-Rumayyan A, Al-Twaijri W, Al-Owain M, Taylor RW, Kaya N. Further delineation of the phenotypic spectrum of?ISCA2 defect: A report of ten new cases. Eur J Paediatr Neurol. 2018 Jan; 22(1):46-55.
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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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Craven L, Alston CL, Taylor RW, Turnbull DM. Recent Advances in Mitochondrial Disease. Annu Rev Genomics Hum Genet. 2017 08 31; 18:257-275.
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McKiernan P, Ball S, Santra S, Foster K, Fratter C, Poulton J, Craig K, McFarland R, Rahman S, Hargreaves I, Gupte G, Sharif K, Taylor RW. Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure. J Pediatr Gastroenterol Nutr. 2016 12; 63(6):592-597.
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Sellars EA, Balmakund T, Bosanko K, Nichols BL, Kahler SG, Zarate YA. Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate. Neuropediatrics. 2017 Apr; 48(2):108-110.
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Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW. The genetics and pathology of mitochondrial disease. J Pathol. 2017 Jan; 241(2):236-250.
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Steele HE, Horvath R, Taylor RW. The swinging pendulum of biomarkers in mitochondrial disease: The role of FGF21. Neurology. 2016 11 29; 87(22):2286-2287.
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Frye RE, Rose S, Chacko J, Wynne R, Bennuri SC, Slattery JC, Tippett M, Delhey L, Melnyk S, Kahler SG, MacFabe DF. Modulation of mitochondrial function by the microbiome metabolite propionic acid in autism and control cell lines. Transl Psychiatry. 2016 10 25; 6(10):e927.
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Ol?hov? M, Thompson K, Hardy SA, Barbosa IA, Besse A, Anagnostou ME, White K, Davey T, Simpson MA, Champion M, Enns G, Schelley S, Lightowlers RN, Chrzanowska-Lightowlers ZM, McFarland R, Deshpande C, Bonnen PE, Taylor RW. Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria. J Inherit Metab Dis. 2017 01; 40(1):121-130.
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Alston CL, Compton AG, Formosa LE, Strecker V, Ol?hov? M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham JW, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Ploski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan MT, Thorburn DR, Taylor RW. Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. Am J Hum Genet. 2016 Jul 07; 99(1):217-27.
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Martikainen MH, Ng YS, Gorman GS, Alston CL, Blakely EL, Schaefer AM, Chinnery PF, Burn DJ, Taylor RW, McFarland R, Turnbull DM. Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease. JAMA Neurol. 2016 06 01; 73(6):668-74.
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Lightowlers RN, Taylor RW, Turnbull DM. Mutations causing mitochondrial disease: What is new and what challenges remain? Science. 2015 Sep 25; 349(6255):1494-9.
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Porter C, Herndon DN, Bhattarai N, Ogunbileje JO, Szczesny B, Szabo C, Toliver-Kinsky T, Sidossis LS. Severe Burn Injury Induces Thermogenically Functional Mitochondria in Murine White Adipose Tissue. Shock. 2015 Sep; 44(3):258-64.
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Lax NZ, Alston CL, Schon K, Park SM, Krishnakumar D, He L, Falkous G, Ogilvy-Stuart A, Lees C, King RH, Hargreaves IP, Brown GK, McFarland R, Dean AF, Taylor RW. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations. J Neuropathol Exp Neurol. 2015 Jul; 74(7):688-703.
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Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, H?berle J, Munnich A, R?tig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J. Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Hum Mol Genet. 2015 Jun 01; 24(11):3238-47.
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Kim D, Garza LA. A new target for squamous cell skin cancer? Exp Dermatol. 2015 Jan; 24(1):14-5.
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Gorman GS, Pfeffer G, Griffin H, Blakely EL, Kurzawa-Akanbi M, Gabriel J, Sitarz K, Roberts M, Schoser B, Pyle A, Schaefer AM, McFarland R, Turnbull DM, Horvath R, Chinnery PF, Taylor RW. Clonal expansion of secondary mitochondrial DNA deletions associated with spinocerebellar ataxia type 28. JAMA Neurol. 2015 Jan; 72(1):106-11.
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Frye RE. Metabolic and mitochondrial disorders associated with epilepsy in children with autism spectrum disorder. Epilepsy Behav. 2015 Jun; 47:147-57.
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Porter C, Herndon DN, B?rsheim E, Chao T, Reidy PT, Borack MS, Rasmussen BB, Chondronikola M, Saraf MK, Sidossis LS. Uncoupled skeletal muscle mitochondria contribute to hypermetabolism in severely burned adults. Am J Physiol Endocrinol Metab. 2014 Sep 01; 307(5):E462-7.
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Taylor RW, Pyle A, Griffin H, Blakely EL, Duff J, He L, Smertenko T, Alston CL, Neeve VC, Best A, Yarham JW, Kirschner J, Schara U, Talim B, Topaloglu H, Baric I, Holinski-Feder E, Abicht A, Czermin B, Kleinle S, Morris AA, Vassallo G, Gorman GS, Ramesh V, Turnbull DM, Santibanez-Koref M, McFarland R, Horvath R, Chinnery PF. Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies. JAMA. 2014 Jul 02; 312(1):68-77.
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Yarham JW, Lamichhane TN, Pyle A, Mattijssen S, Baruffini E, Bruni F, Donnini C, Vassilev A, He L, Blakely EL, Griffin H, Santibanez-Koref M, Bindoff LA, Ferrero I, Chinnery PF, McFarland R, Maraia RJ, Taylor RW. Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. PLoS Genet. 2014 Jun; 10(6):e1004424.
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Xie Y, McGill MR, Dorko K, Kumer SC, Schmitt TM, Forster J, Jaeschke H. Mechanisms of acetaminophen-induced cell death in primary human hepatocytes. Toxicol Appl Pharmacol. 2014 Sep 15; 279(3):266-274.
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Madmani ME, Yusuf Solaiman A, Tamr Agha K, Madmani Y, Shahrour Y, Essali A, Kadro W. Coenzyme Q10 for heart failure. Cochrane Database Syst Rev. 2014 Jun 02; (6):CD008684.
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Gr?newald A, Lax NZ, Rocha MC, Reeve AK, Hepplewhite PD, Rygiel KA, Taylor RW, Turnbull DM. Quantitative quadruple-label immunofluorescence of mitochondrial and cytoplasmic proteins in single neurons from human midbrain tissue. J Neurosci Methods. 2014 Jul 30; 232:143-9.
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