Fol. Biol. 2018, 64, 31-34

https://doi.org/10.14712/fb2018064010031

Buccal Respiratory Chain Complexes I and IV Quantities in Huntington’s Disease Patients

P. Dušek1, M. Rodinová2, I. Lišková1, J. Klempíř1,3, J. Zeman2, J. Roth1, Hana Hansíková2

1Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic
2Laboratory for the Study of Mitochondrial Disorders, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic
3Institute of Anatomy, First Faculty of Medicine, Charles University and General University Hospital in Prague, Czech Republic

Received February 2018
Accepted March 2018

References

1. Bahadorani, S., Cho, J., Lo, T., Contreras, H., Lawal, H. O., Krantz, D. E., Bradley, T. J., Walker, D. W. (2010) Neuronal expression of a single-subunit yeast NADH-ubiquinone oxidoreductase (Ndi1) extends Drosophila lifespan. Aging Cell 9, 191-202. <https://doi.org/10.1111/j.1474-9726.2010.00546.x>
2. Böhm, M., Papezova, H., Hansikova, H., Wenchich, L., Zeman, J. (2007) Activities of respiratory chain complexes in isolated platelets in females with anorexia nervosa. Int. J. Eat. Disord. 40, 659-663. <https://doi.org/10.1002/eat.20403>
3. Brennan, W., Bird, E., Aprille, J. (1985) Regional mitochondrial respiratory activity in Huntington’s disease brain. J. Neurochem. 44, 1948-1950. <https://doi.org/10.1111/j.1471-4159.1985.tb07192.x>
4. Browne, S., Bowling, A., Macgarvey, U., Baik, J. M., Berger, S. C., Muquit, M. M. K., Bird, E. D., Beal, M. F. (1997) Oxidative damage and metabolic dysfunction in Huntington’s disease: selective vulnerability of the basal ganglia. Ann. Neurol. 41, 646-653. <https://doi.org/10.1002/ana.410410514>
5. Cardoso, F., Seppi, K., Mair, K. J., Wenning, G. K., Poewe, W. (2006) Seminar on choreas. Lancet Neurol. 5, 589-602. <https://doi.org/10.1016/S1474-4422(06)70494-X>
6. Cardoso, F. (2017) Nonmotor symptoms in Huntington disease. Int. Rev. Neurobiol. 134, 1397-1408. <https://doi.org/10.1016/bs.irn.2017.05.004>
7. Cui, L., Jeong, H., Borovecki, F., Parkhurst, C. N., Tanese, N., Krainc, D. (2006) Transcriptional repression of PGC-1α by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. Cell 127, 59-69. <https://doi.org/10.1016/j.cell.2006.09.015>
8. Damiano, M., Diguet, E., Malgorn, C., D’Aurelio, M., Galvan, L., Petit, F., Benhaim, L. (2013) A role of mitochondrial Complex II defects in genetic models of Huntington’s disease expressing N-terminal fragments of mutant huntingtin. Hum. Mol. Genet. 22, 3869-3882. <https://doi.org/10.1093/hmg/ddt242>
9. Giachin, G., Bouverot, R., Acajjaoui, S., Pantalone, S., Soler- López, M. (2016) Dynamics of human mitochondrial Complex I assembly: implications for neurodegenerative diseases. Front. Mol. Biosci. 3, 43. <https://doi.org/10.3389/fmolb.2016.00043>
10. Goldenthal, M. J., Damle, S., Sheth, S., Shah, N., Melvin, J., Jethva, R., Hardison, H., Marks, H., Legido, A. (2015) Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis. Biomarkers Med. 9, 957-965. <https://doi.org/10.2217/bmm.15.72>
11. Gu, M., Gash, M. T., Mann, V. M., Javoy-Agid, F., Cooper, J. M., Schapira, A. H. V. (1996) Mitochondrial defect in Huntington’s disease caudate nucleus. Ann. Neurol. 39, 385-389. <https://doi.org/10.1002/ana.410390317>
12. Harris, P. A., Taylor, R., Thielke, R., Payne, J., Gonzalez, N., Conde, J. G. (2009) Research electronic data capture (REDCap) – a metadata-driven methodology and workflow process for providing translational research informatics support. J. Biomed. Inf. 42, 377-381. <https://doi.org/10.1016/j.jbi.2008.08.010>
13. Hoogeveen, A. T., Willemsen, R., Meyer, N., de Rooij, K. E., Roos, R. A., van Ommen, G. J., Galjaard, H. (1993) Characterization and localization of the Huntington disease gene product. Hum. Mol. Genet. 2, 2069-2073. <https://doi.org/10.1093/hmg/2.12.2069>
14. Hur, J. H., Bahadorani, S., Graniel, J., Koehler, C. L,. Ulgherait, M., Rera, M., Jones, D. L., Walker, D. W. (2013) Increased longevity mediated by yeast NDI1 expression in Drosophila intestinal stem and progenitor cells. Aging (Albany) 5, 662-681. <https://doi.org/10.18632/aging.100595>
15. Kim, J., Moody, J. P., Edgerly, C. K., Bordiuk, O. L., Cormier, K., Smith, K., Beal, M. F., Ferrante, R. J. (2010) Mitochondrial loss, dysfunction and altered dynamics in Huntington’s disease. Hum. Mol. Genet. 19, 3919-3935. <https://doi.org/10.1093/hmg/ddq306>
16. Kim, S. E., Mori, R., Komatsu, T., Chiba, T., Hayashi, H., Park, S., Sugawa, M. D., Dencher, N. A., Shimokawa, I. (2015) Upregulation of cytochrome c oxidase subunit 6b1 (Cox6b1) and formation of mitochondrial supercomplexes: implication of Cox6b1 in the effect of calorie restriction. Age (Dordr) 37, 9787. <https://doi.org/10.1007/s11357-015-9787-8>
17. Klempíř, J., Hansíková, H., Roth, J., Židovská, J., Böhm, M., Zeman, J. (2005) Čes. a Slov. Neurol. Neurochir. 68/101, 169-174. (in Czech)
18. Labuschagne, I, Cassidy, A. M., Scahill, R. I., Johnson, E. B., Rees, E., O’Regan, A., Queller, S. (2016) Visuospatial processing deficits linked to posterior brain regions in premanifest and early stage Huntington’s disease. J. Int. Neuropsychol. Soc. 22, 595-608. <https://doi.org/10.1017/S1355617716000321>
19. Lowry, O. H., Rosebrough, R. J., Farr, A. L., Randall, R. J. (1951) Protein measurement with the Folin phenol reagent. J. Biol. Chem. 193, 265-275. <https://doi.org/10.1016/S0021-9258(19)52451-6>
20. Mielcarek, M., Bondulich, M. K., Inuabasi, L., Franklin, S. A., Muller, T., Bates, G. P. (2014) The Huntington’s disease- related cardiomyopathy prevents a hypertrophic response in the R6/2 mouse model. PloS One 9, e108961. <https://doi.org/10.1371/journal.pone.0108961>
21. Oliphant, T. E. (2007) Python for scientific computing. Comput. Sci. Eng. 9, 10-20. <https://doi.org/10.1109/MCSE.2007.58>
22. Panov, A. V., Gutekunst, C. A., Leavitt, B. R., Hayden, M. R., Burke, J. R., Strittmatter, W. J., Greenamyre, J. T. (2002) Early mitochondrial calcium defects in Huntington’s disease are a direct effect of polyglutamines. Nat. Neurosci. 5, 731-736. <https://doi.org/10.1038/nn884>
23. Powers, W. J., Haas, R. H., Le, T., Videen, T. O., Markham, J., Perlmutter, J. S. (2011) Platelet mitochondrial Complex I and I+III activities do not correlate with cerebral mitochondrial oxidative metabolism. J. Cereb. Blood Flow Metab. 31, e1-5. <https://doi.org/10.1038/jcbfm.2010.179>
24. Profant, O., Roth, J., Bureš, Z., Balogová, Z., Lišková, I., Betka, J., Syka, J. (2017) Auditory dysfunction in patients with Huntington’s disease. Clin. Neurophysiol. 128, 1946-1953. <https://doi.org/10.1016/j.clinph.2017.07.403>
25. Rawlins, M. D., Wexler, N. S., Wexler, A. R., Tabrizi, S. J., Douglas, I., Evans, S. J. W., Smeeth, L. (2016) The prevalence of Huntington’s disease. Neuroepidemiology 46, 144-153. <https://doi.org/10.1159/000443738>
26. Rhein, V., Song, X., Wiesner, A., Ittner, L. M., Baysang, G., Meier, F., Ozmen, L. (2009) Amyloid-β and τ synergistically impair the oxidative phosphorylation system in triple transgenic Alzheimer’s disease mice. Proc. Natl. Acad. Sci. USA 106, 20057-20062. <https://doi.org/10.1073/pnas.0905529106>
27. Rodinová, M., Trefilová, E., Honzík, T., Tesařová, M., Zeman, J., Hansíková, H. (2014) Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay. Folia Biol. (Praha) 60, 268-274.
28. Sanz, A., Soikkeli, M., Portero-Otín, M., Wilson, A., Kemppainen, E., McIlroy, G., Ellilä, S., Kemppainen, K. K., Tuomela, T., Lakanmaa, M., Kiviranta, E., Stefanatos, R., Dufour, E., Hutz, B., Naudí, A., Jové, M., Zeb, A., Vartiainen, S., Matsuno-Yagi, A., Yagi, T., Rustin, P., Pamplona, R., Jacobs, H.,T. (2010) Expression of the yeast NADH dehydrogenase Ndi1 in Drosophila confers increased lifespan independently of dietary restriction. Proc. Natl. Acad. Sci. USA 107, 9105-9110. <https://doi.org/10.1073/pnas.0911539107>
29. Silva, A. C., Almeida, S., Laço, M., Duarte, A. I., Domingues, J., Oliveira, C. R., Januário, C., Rego, A. C. (2013) Mitochondrial respiratory chain complex activity and bioenergetic alterations in human platelets derived from pre-symptomatic and symptomatic Huntington’s disease carriers. Mitochondrion 13, 801-809. <https://doi.org/10.1016/j.mito.2013.05.006>
30. Solans, A., Zambrano, A., Rodríguez, M., Barrientos, A. (2006) Cytotoxicity of a mutant Huntingtin fragment in yeast involves early alterations in mitochondrial OXPHOS Complexes II and III. Hum. Mol. Genet. 15, 3063-3081. <https://doi.org/10.1093/hmg/ddl248>
31. Tabrizi, S. J., Cleeter, M. W., Xuereb, J., Taanman, J. W., Cooper, J. M., Schapira, A. H. (1999) Biochemical abnormalities and excitotoxicity in Huntington’s disease brain. Ann. Neurol. 45, 25-32. <https://doi.org/10.1002/1531-8249(199901)45:1<25::AID-ART6>3.0.CO;2-E>
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