Cycling temperature capillary electrophoresis: A quantitative, fast and inexpensive method to detect mutations in mixed populations of human mitochondrial DNA.


:Cycling temperature capillary electrophoresis has been optimised for mutation detection in 76% of the mitochondrial genome. The method was tested on a mixed sample and compared to mutation detection by next generation sequencing. Out of 152 fragments 90 were concordant, 51 discordant and in 11 were semi-concordant. Dilution experiments show that cycling capillary electrophoresis has a detection limit of 1-3%. The detection limit of routine next generation sequencing was in the ranges of 15 to 30%. Cycling temperature capillary electrophoresis detect and accurate quantify mutations at a fraction of the cost and time required to perform a next generation sequencing analysis.






Refinetti P,Morgenthaler S,Ekstrøm PO




Has Abstract


2016-07-01 00:00:00












  • Derivatives of the cationic plant alkaloids berberine and palmatine amplify protonophorous activity of fatty acids in model membranes and mitochondria.

    abstract::Previously it has been shown by our group that berberine and palmatine, penetrating cations of plant origin, when conjugated with plastoquinone (SkQBerb and SkQPalm), can accumulate in isolated mitochondria or in mitochondria of living cells and effectively protect them from oxidative damage. In the present work, we d...


    pub_type: 杂志文章


    authors: Pustovidko AV,Rokitskaya TI,Severina II,Simonyan RA,Trendeleva TA,Lyamzaev KG,Antonenko YN,Rogov AG,Zvyagilskaya RA,Skulachev VP,Chernyak BV

    更新日期:2013-09-01 00:00:00

  • Platelet mitochondrial evaluation during cytochrome c and dichloroacetate treatments of MELAS.

    abstract::We hypothesized that serial changes in platelet (PLT) mitochondrial enzyme (ME) activities might correspond to the effects of medications for mitochondrial encephalomyopathy and stroke-like episodes (MELAS). Cytochrome c and sodium dichloroacetate (DCA) were given to a 7-year-old girl with MELAS who had an A3243G mito...


    pub_type: 杂志文章


    authors: Nakano K,Tarashima M,Tachikawa E,Noda N,Nakayama T,Sasaki K,Mizoguchi E,Matsuzaki M,Osawa M

    更新日期:2005-12-01 00:00:00

  • Muscle mitochondrial capacity exceeds maximal oxygen delivery in humans.

    abstract::Across a wide range of species and body mass a close matching exists between maximal conductive oxygen delivery and mitochondrial respiratory rate. In this study we investigated in humans how closely in-vivo maximal oxygen consumption (VO(2) max) is matched to state 3 muscle mitochondrial respiration. High resolution ...


    pub_type: 杂志文章


    authors: Boushel R,Gnaiger E,Calbet JA,Gonzalez-Alonso J,Wright-Paradis C,Sondergaard H,Ara I,Helge JW,Saltin B

    更新日期:2011-03-01 00:00:00

  • Mitochondrial dysfunction in glaucoma: understanding genetic influences.

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    pub_type: 杂志文章,评审


    authors: Lascaratos G,Garway-Heath DF,Willoughby CE,Chau KY,Schapira AH

    更新日期:2012-03-01 00:00:00

  • Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.

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    pub_type: 杂志文章


    authors: Cameron JM,Levandovskiy V,Mackay N,Ackerley C,Chitayat D,Raiman J,Halliday WH,Schulze A,Robinson BH

    更新日期:2011-01-01 00:00:00

  • Complete mitochondrial DNA sequence analysis of Bison bison and bison-cattle hybrids: function and phylogeny.

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    pub_type: 杂志文章


    authors: Douglas KC,Halbert ND,Kolenda C,Childers C,Hunter DL,Derr JN

    更新日期:2011-01-01 00:00:00

  • Mitophagy Impairment in Neurodegenerative Diseases: Pathogenesis and Therapeutic Interventions.

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    pub_type: 杂志文章


    authors: Mani S,Swargiary G,Chadha R

    更新日期:2021-01-18 00:00:00

  • Maternally inherited diabetes is associated with a homoplasmic T10003C mutation in the mitochondrial tRNA(Gly) gene.

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    pub_type: 杂志文章


    authors: Liu H,Li R,Li W,Wang M,Ji J,Zheng J,Mao Z,Mo JQ,Jiang P,Lu J,Guan MX

    更新日期:2015-03-01 00:00:00

  • A mitochondrial proteomics view of complex I deficiency in Candida albicans.

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    pub_type: 杂志文章


    authors: She X,Zhang P,Gao Y,Zhang L,Wang Q,Chen H,Calderone R,Liu W,Li D

    更新日期:2018-01-01 00:00:00

  • Altered redox status of coenzyme Q9 reflects mitochondrial electron transport chain deficiencies in Caenorhabditis elegans.

    abstract::Mitochondrial disorders are often associated with primary or secondary CoQ10 decrease. In clinical practice, Coenzyme Q10 (CoQ10) levels are measured to diagnose deficiencies and to direct and monitor supplemental therapy. CoQ10 is reduced by complex I or II and oxidized by complex III in the mitochondrial respiratory...


    pub_type: 杂志文章


    authors: Vasta V,Sedensky M,Morgan P,Hahn SH

    更新日期:2011-01-01 00:00:00

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    pub_type: 杂志文章


    authors: Pettersen IKN,Tusubira D,Ashrafi H,Dyrstad SE,Hansen L,Liu XZ,Nilsson LIH,Løvsletten NG,Berge K,Wergedahl H,Bjørndal B,Fluge Ø,Bruland O,Rustan AC,Halberg N,Røsland GV,Berge RK,Tronstad KJ

    更新日期:2019-11-01 00:00:00

  • Miro (Mitochondrial Rho GTPase), a key player of mitochondrial axonal transport and mitochondrial dynamics in neurodegenerative diseases.

    abstract::Miro (mitochondrial Rho GTPases) a mitochondrial outer membrane protein, plays a vital role in the microtubule-based mitochondrial axonal transport, mitochondrial dynamics (fusion and fission) and Mito-Ca2+ homeostasis. It forms a major protein complex with Milton (an adaptor protein), kinesin and dynein (motor protei...


    pub_type: 杂志文章,评审


    authors: Panchal K,Tiwari AK

    更新日期:2021-01-01 00:00:00

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    abstract::Yeast cells lacking the mitochondrial NADH kinase encoded by POS5 display increased sensitivity to hydrogen peroxide, a slow-growth phenotype, reduced mitochondrial function and increased levels of mitochondrial protein oxidation and mtDNA mutations. Here we examined gene expression in pos5Delta cells, comparing these...


    pub_type: 杂志文章


    authors: Stuart GR,Humble MM,Strand MK,Copeland WC

    更新日期:2009-06-01 00:00:00

  • NDUFS4: creation of a mouse model mimicking a Complex I disorder.

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    pub_type: 杂志文章


    authors: Ingraham CA,Burwell LS,Skalska J,Brookes PS,Howell RL,Sheu SS,Pinkert CA

    更新日期:2009-06-01 00:00:00

  • Complex I deficiency, due to NDUFAF4 mutations, causes severe mitochondrial dysfunction and is associated to early death and dysmorphia.

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    pub_type: 杂志文章


    authors: Ugarteburu O,Teresa Garcia-Silva M,Aldamiz-Echevarria L,Gort L,Garcia-Villoria J,Tort F,Ribes A

    更新日期:2020-11-01 00:00:00

  • PINK1 parkinsonism and Parkinson disease: distinguishable brain mitochondrial function and metabolomics.

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    pub_type: 杂志文章


    authors: Rango M,Arighi A,Marotta G,Ronchi D,Bresolin N

    更新日期:2013-01-01 00:00:00

  • Detection of suppressed maturation of the human COQ5 protein in the mitochondria following mitochondrial uncoupling by an antibody recognizing both precursor and mature forms of COQ5.

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    pub_type: 杂志文章


    authors: Chen SW,Liu CC,Yen HC

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    pub_type: 杂志文章


    authors: Chitturi J,Santhakumar V,Kannurpatti SS

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  • Improvement of mitochondrial energy and oxidative balance during intestinal differentiation.

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    pub_type: 杂志文章


    authors: Santandreu FM,Oliver J,Roca P

    更新日期:2011-01-01 00:00:00

  • FATP1 localizes to mitochondria and enhances pyruvate dehydrogenase activity in skeletal myotubes.

    abstract::Fatty acid transport protein 1 (FATP1) has been previously immunolocalized in intracellular compartments. Here we show that FATP1 localizes to the mitochondria in cultured myotubes, by immunoblots of subcellular fractions and immunocytology of the fusion protein FATP1-GFP. FATP1 strongly stimulates CO(2) production fr...


    pub_type: 杂志文章


    authors: Guitart M,Andreu AL,García-Arumi E,Briones P,Quintana E,Gómez-Foix AM,García-Martínez C

    更新日期:2009-07-01 00:00:00

  • Diet influences the intake target and mitochondrial functions of Drosophila melanogaster males.

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    pub_type: 杂志文章


    authors: Pichaud N,Messmer M,Correa CC,Ballard JW

    更新日期:2013-11-01 00:00:00

  • Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.

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    pub_type: 杂志文章


    authors: Nishigaki Y,Ueno H,Coku J,Koga Y,Fujii T,Sahashi K,Nakano K,Yoneda M,Nonaka M,Tang L,Liou CW,Paquis-Flucklinger V,Harigaya Y,Ibi T,Goto Y,Hosoya H,DiMauro S,Hirano M,Tanaka M

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    pub_type: 杂志文章


    authors: Lorenc A,Bryk J,Golik P,Kupryjańczyk J,Ostrowski J,Pronicki M,Semczuk A,Szołkowska M,Bartnik E

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  • Determination of muscle mitochondrial respiratory capacity in Standardbred racehorses as an aid to predicting exertional rhabdomyolysis.

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    pub_type: 杂志文章


    authors: Houben R,Leleu C,Fraipont A,Serteyn D,Votion DM

    更新日期:2015-09-01 00:00:00

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    pub_type: 杂志文章,评审


    authors: Ostersetzer-Biran O,Klipcan L

    更新日期:2020-09-01 00:00:00

  • Type 2 Transglutaminase, mitochondria and Huntington's disease: menage a trois.

    abstract::Mitochondria produce the bulk of cellular energy and work as decisional "hubs" for cellular responses by integrating different input signals. The determinant in the physiopathology of mammals, they attract major attention, nowadays, for their contribution to brain degeneration. How they can withstand or succumb to ins...


    pub_type: 杂志文章,评审


    authors: Altuntas S,D'Eletto M,Rossin F,Hidalgo LD,Farrace MG,Falasca L,Piredda L,Cocco S,Mastroberardino PG,Piacentini M,Campanella M

    更新日期:2014-11-01 00:00:00

  • Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases.

    abstract::Mitochondrial encephalomyopathies are highly variable clinically and at the genetic level. In practice, when the mitochondrial DNA (mtDNA) of any mitochondrial-patient is sequenced, a very high number of variations are noted. The vast majority of these differences are simply polymorphisms, that is, non-pathologic, hom...


    pub_type: 杂志文章


    authors: Crimi M,Galbiati S,Sciacco M,Bordoni A,Natali MG,Raimondi M,Bresolin N,Comi GP

    更新日期:2004-04-01 00:00:00

  • Putative partners in Bax mediated cytochrome-c release: ANT, CypD, VDAC or none of them?

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    pub_type: 杂志文章,评审


    authors: Kumarswamy R,Chandna S

    更新日期:2009-02-01 00:00:00

  • Complex II inactivation is lethal in the nematode Caenorhabditis elegans.

    abstract::RNA-mediated interference (RNAi) was employed to systematically inactivate the four subunits of complex II in the mitochondrial electron transport chain. Embryonic lethality was the predominant result of inactivating three subunits (ceSDHB, ceSDHC, and ceSDHD) when using the soaking method to inactivate RNA. The feedi...


    pub_type: 杂志文章


    authors: Ichimiya H,Huet RG,Hartman P,Amino H,Kita K,Ishii N

    更新日期:2002-12-01 00:00:00

  • Diagnostic challenges of mitochondrial DNA disorders.

    abstract::Although mitochondrial disorders are increasingly being recognized, confirming a specific diagnosis remains a great challenge due to the genetic and clinical heterogeneity of the disease. The heteroplasmic nature of most pathogenic mitochondrial DNA mutations and the uncertainties of the clinical significance of novel...


    pub_type: 杂志文章,评审


    authors: Wong LJ

    更新日期:2007-02-01 00:00:00