Table of Contents Author Guidelines Submit a Manuscript
Clinical and Developmental Immunology
Volume 2012 (2012), Article ID 832464, 5 pages
http://dx.doi.org/10.1155/2012/832464
Research Article

Mitochondrial Mutations are Associated with Atherosclerotic Lesions in the Human Aorta

1Russian Cardiology Research and Production Complex, 121552 Moscow, Russia
2Institute of General Pathology and Pathophysiology, Russian Academy of Medical Sciences, 125315 Moscow, Russia
3Institute for Atherosclerosis Research, Skolkovo Innovative Centre, 143025 Moscow, Russia
4School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, NSW 2052, Australia

Received 14 June 2012; Revised 16 August 2012; Accepted 16 August 2012

Academic Editor: Timothy B. Niewold

Copyright © 2012 Igor A. Sobenin et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. G. Wick, M. Knoflach, and Q. Xu, “Autoimmune and inflammatory mechanisms in atherosclerosis,” Annual Review of Immunology, vol. 22, pp. 361–403, 2004. View at Publisher · View at Google Scholar · View at Scopus
  2. C. Blasi, “The autoimmune origin of atherosclerosis,” Atherosclerosis, vol. 201, no. 1, pp. 248–32, 2008. View at Google Scholar
  3. J. Nilsson and G. K. Hansson, “Autoimmunity in atherosclerosis: a protective response losing control?” Journal of Internal Medicine, vol. 263, no. 5, pp. 464–478, 2008. View at Publisher · View at Google Scholar · View at Scopus
  4. C. Grundtman and G. Wick, “The autoimmune concept of atherosclerosis,” Current Opinion in Lipidology, vol. 22, no. 5, pp. 327–334, 2011. View at Publisher · View at Google Scholar
  5. D. A. Chistiakov, I. A. Sobenin, Y. V. Bobryshev, and A. N. Orekhov, “Mitochondrial dysfunction and mitochondrial DNA mutations in atherosclerotic complications in diabetes,” World Journal of Cardiology, vol. 4, no. 5, pp. 148–156, 2012. View at Publisher · View at Google Scholar
  6. R. Ross, “Atherosclerosis-an inflammatory disease,” New England Journal of Medicine, vol. 340, no. 2, pp. 115–126, 1999. View at Publisher · View at Google Scholar · View at Scopus
  7. G. K. Hansson, “Atherosclerosis-An immune disease. The Anitschkov Lecture 2007,” Atherosclerosis, vol. 202, no. 1, pp. 2–10, 2009. View at Publisher · View at Google Scholar · View at Scopus
  8. A. L. Andreu, M. G. Hanna, H. Reichmann et al., “Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA,” New England Journal of Medicine, vol. 341, no. 14, pp. 1037–1044, 1999. View at Publisher · View at Google Scholar · View at Scopus
  9. M. Chol, S. Lebon, P. Bénit et al., “The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency,” Journal of Medical Genetics, vol. 40, no. 3, pp. 188–191, 2003. View at Google Scholar · View at Scopus
  10. C. B. Han, J. M. Ma, Y. Xin et al., “Mutations of mitochondrial 12S rRNA in gastric carcinoma and their significance,” World Journal of Gastroenterology, vol. 11, no. 1, pp. 31–35, 2005. View at Google Scholar · View at Scopus
  11. H. Tanimoto, H. Nishio, M. Matsuo, and K. I. Nibu, “A novel mitochondrial mutation, 1556 C/T, in a Japanese patient with streptomycin-induced tinnitus,” Acta Oto-Laryngologica, vol. 124, no. 3, pp. 258–261, 2004. View at Publisher · View at Google Scholar · View at Scopus
  12. K. Yamagata, K. Muro, J. Usui et al., “Mitochondrial DNA mutations in focal segmental glomerulosclerosis lesions,” Journal of the American Society of Nephrology, vol. 13, no. 7, pp. 1816–1823, 2002. View at Publisher · View at Google Scholar · View at Scopus
  13. H. Matsunaga, Y. Tanaka, M. Tanaka et al., “Antiatherogenic mitochondrial genotype in patients with type 2 diabetes,” Diabetes Care, vol. 24, no. 3, pp. 500–503, 2001. View at Google Scholar · View at Scopus
  14. T. J. Chen, R. G. Boles, and L. J. C. Wong, “Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis,” Clinical Chemistry, vol. 45, no. 8, pp. 1162–1167, 1999. View at Google Scholar · View at Scopus
  15. K. Fu, R. Hartlen, T. Johns, A. Genge, G. Karpati, and E. A. Shoubridge, “A novel heteroplasmic tRNA(leu(CUN)) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy,” Human Molecular Genetics, vol. 5, no. 11, pp. 1835–1840, 1996. View at Publisher · View at Google Scholar · View at Scopus
  16. A. Solano, M. Roig, C. Vives-Bauza et al., “Bilateral striatal necrosis associated with a novel mutation in the mitochondrial ND6 gene,” Annals of Neurology, vol. 54, no. 4, pp. 527–530, 2003. View at Publisher · View at Google Scholar · View at Scopus
  17. R. Horváth, C. Scharfe, M. Hoeltzenbein et al., “Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene,” Journal of Medical Genetics, vol. 39, no. 11, pp. 812–816, 2002. View at Google Scholar · View at Scopus
  18. D. S. Kim, D. S. Jung, K. H. Park et al., “Histochemical and molecular genetic study of MELAS and MERRF in Korean patients.,” Journal of Korean medical science, vol. 17, no. 1, pp. 103–112, 2002. View at Google Scholar · View at Scopus
  19. D. A. Varlamov, A. P. Kudin, S. Vielhaber et al., “Metabolic consequences of a novel missense mutation of the mtDNA CO I gene,” Human Molecular Genetics, vol. 11, no. 16, pp. 1797–1805, 2002. View at Google Scholar · View at Scopus
  20. A. Gropman, T. J. Chen, C. L. Perng et al., “Variable clinical manifestation of homoplasmic G14459A mitochondrial DNA mutation,” American Journal of Medical Genetics, vol. 124, no. 4, pp. 377–382, 2004. View at Google Scholar · View at Scopus
  21. P. Y. W. Man, P. G. Griffiths, D. T. Brown, N. Howell, D. M. Turnbull, and P. F. Chinnery, “The epidemiology of leber hereditary optic neuropathy in the North East of England,” American Journal of Human Genetics, vol. 72, no. 2, pp. 333–339, 2003. View at Publisher · View at Google Scholar · View at Scopus
  22. Y. Nishigaki, R. Martí, W. C. Copeland, and M. Hirano, “Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency,” Journal of Clinical Investigation, vol. 111, no. 12, pp. 1913–1921, 2003. View at Publisher · View at Google Scholar · View at Scopus
  23. A. Baracca, S. Barogi, V. Carelli, G. Lenaz, and G. Solaini, “Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a,” Journal of Biological Chemistry, vol. 275, no. 6, pp. 4177–4182, 2000. View at Publisher · View at Google Scholar · View at Scopus
  24. T. D. Jeppesen, M. Schwartz, K. Hansen, E. R. Danielsen, F. Wibrand, and J. Vissing, “Late onset of stroke-like episode associated with a 3256C→T point mutation of mitochondrial DNA,” Journal of the Neurological Sciences, vol. 214, no. 1-2, pp. 17–20, 2003. View at Publisher · View at Google Scholar · View at Scopus
  25. M. Sazonova, E. Budnikov, Z. Khasanova, I. Sobenin, A. Postnov, and A. Orehov, “Studies of the human aortic intima by a direct quantitative assay of mutant alleles in the mitochondrial genome,” Atherosclerosis, vol. 204, no. 1, pp. 184–190, 2009. View at Publisher · View at Google Scholar · View at Scopus
  26. A. Alderborn, A. Kristofferson, and U. Hammerling, “Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing,” Genome Research, vol. 10, no. 8, pp. 1249–1258, 2000. View at Publisher · View at Google Scholar · View at Scopus
  27. D. C. Chen, J. Saarela, I. Nuotio, A. Jokiaho, L. Peltonen, and A. Palotie, “Comparison of GenFlex Tag array and pyrosequencing in SNP genotyping,” Journal of Molecular Diagnostics, vol. 5, no. 4, pp. 243–249, 2003. View at Google Scholar · View at Scopus
  28. A. Sinclair, C. Arnold, and N. Woodford, “Rapid detection and estimation by pyrosequencing of 23S rRNA genes with a single nucleotide polymorphism conferring linezolid resistance in enterococci,” Antimicrobial Agents and Chemotherapy, vol. 47, no. 11, pp. 3620–3622, 2003. View at Publisher · View at Google Scholar · View at Scopus
  29. M. G. Andreassi, N. Botto, M. G. Colombo, A. Biagini, and A. Clerico, “Genetic instability and atherosclerosis: can somatic mutations account for the development of cardiovascular diseases?” Environmental and Molecular Mutagenesis, vol. 35, no. 4, pp. 265–269, 2000. View at Publisher · View at Google Scholar
  30. J. T. Salonen, S. Ylä-Herttuala, R. Yamamoto et al., “Autoantibody against oxidised LDL and progression of carotid atherosclerosis,” The Lancet, vol. 339, no. 8798, pp. 883–887, 1992. View at Google Scholar · View at Scopus