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Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing

Rachel Brockhage Jesse Slone Zeqian Ma Madhuri R. Hegde C. Alexander Valencia Taosheng Huang

Rachel Brockhage, Jesse Slone, Zeqian Ma, Madhuri R. Hegde, C. Alexander Valencia, Taosheng Huang. Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing[J]. Journal of Genetics and Genomics, 2018, 45(6): 333-335. doi: 10.1016/j.jgg.2018.06.001
Citation: Rachel Brockhage, Jesse Slone, Zeqian Ma, Madhuri R. Hegde, C. Alexander Valencia, Taosheng Huang. Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing[J]. Journal of Genetics and Genomics, 2018, 45(6): 333-335. doi: 10.1016/j.jgg.2018.06.001

doi: 10.1016/j.jgg.2018.06.001

Validation of the diagnostic potential of mtDNA copy number derived from whole genome sequencing

More Information
  • [1] Bai, R.-K., Wong, L.-J.C. Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease J. Mol. Diagn., 7 (2005),pp. 613-622
    [2] Bosworth, C.M., Grandhi, S., Gould, M.P. et al. Detection and quantification of mitochondrial DNA deletions from next-generation sequence data BMC Bioinformatics, 18 (2017),p. 407
    [3] Chakrabarty, S., D'Souza, R.R., Kabekkodu, S.P. et al. Upregulation of TFAM and mitochondria copy number in human lymphoblastoid cells Mitochondrion, 15 (2014),pp. 52-58
    [4] Cheau-Feng Lin, F., Jeng, Y.C., Huang, T.Y. et al. Mitochondrial DNA copy number is associated with diagnosis and prognosis of head and neck cancer Biomarkers, 19 (2014),pp. 269-274
    [5] Chen, Y., Hill, H.Z., Lange, G. et al. Salivary mitochondrial DNA copy number is associated with exercise ventilatory efficiency J. Strength Cond. Res., 31 (2017),pp. 2000-2004
    [6] El-Hattab, A.W., Scaglia, F. Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options Neurotherapeutics, 10 (2013),pp. 186-198
    [7] Feng, Y.M., Jia, Y.F., Su, L.Y. et al. Decreased mitochondrial DNA copy number in the hippocampus and peripheral blood during opiate addiction is mediated by autophagy and can be salvaged by melatonin Autophagy, 9 (2013),pp. 1395-1406
    [8] Ferrari, G., Lamantea, E., Donati, A. et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA Brain, 128 (2005),pp. 723-731
    [9] Garrido-Maraver, J., Paz, M.V., Cordero, M.D. et al. Critical role of AMP-activated protein kinase in the balance between mitophagy and mitochondrial biogenesis in MELAS disease Biochim. Biophys. Acta, 1852 (2015),pp. 2535-2553
    [10] Giordano, C., Iommarini, L., Giordano, L. et al. Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy Brain, 137 (2014),pp. 335-353
    [11] Gonzalez-Hunt, C.P., Rooney, J.P., Ryde, I.T. et al. PCR-based analysis of mitochondrial DNA copy number, mitochondrial DNA damage, and nuclear DNA damage Curr. Protoc. Toxicol., 67 (2016)
    [12] Grady, J.P., Murphy, J.L., Blakely, E.L. et al. Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle PLoS One, 9 (2014)
    [13] Hori, A., Yoshida, M., Shibata, T. et al. Reactive oxygen species regulate DNA copy number in isolated yeast mitochondria by triggering recombination-mediated replication Nucleic Acids Res., 37 (2009),pp. 749-761
    [14] Ikeda, M., Ide, T., Fujino, T. et al. Overexpression of TFAM or twinkle increases mtDNA copy number and facilitates cardioprotection associated with limited mitochondrial oxidative stress PLoS One, 10 (2015)
    [15] Karadimas, C.L., Vu, T.H., Holve, S.A. et al. Am. J. Hum. Genet., 7979 (2006),pp. 544-548
    [16] Li, H., Bi, R., Fan, Y. et al. mtDNA heteroplasmy in monozygotic twins discordant for schizophrenia Mol. Neurobiol., 54 (2017),pp. 4343-4352
    [17] Mancuso, M., Salviati, L., Sacconi, S. et al. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA Neurology, 59 (2002),pp. 1197-1202
    [18] Moraes, C.T., Shanske, S., Tritschler, H.J. et al. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases Am. J. Hum. Genet., 48 (1991),pp. 492-501
    [19] Patowary, A., Nesbitt, R., Archer, M. et al. Next generation sequencing mitochondrial DNA analysis in autism spectrum disorder Autism Res., 10 (2017),pp. 1338-1343
    [20] Song, G.J., Lewis, V. Mitochondrial DNA integrity and copy number in sperm from infertile men Fertil. Steril., 90 (2008),pp. 2238-2244
    [21] Spinazzola, A., Invernizzi, F., Carrara, F. et al. Clinical and molecular features of mitochondrial DNA depletion syndromes J. Inherit. Metab. Dis., 32 (2009),pp. 143-158
    [22] Zhang, R., Wang, Y., Ye, K. et al. Independent impacts of aging on mitochondrial DNA quantity and quality in humans BMC Genomics, 18 (2017),p. 890
    [23] Zhou, W., Zhu, M., Gui, M. et al. Peripheral blood mitochondrial DNA copy number is associated with prostate cancer risk and tumor burden PLoS One, 9 (2014)
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出版历程
  • 收稿日期:  2018-03-05
  • 录用日期:  2018-06-04
  • 修回日期:  2018-06-03
  • 网络出版日期:  2018-06-06
  • 刊出日期:  2018-06-20

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