Domínguez A LJE, Huesca HF

Language: Spanish
References: 40
Page: 72-78
PDF size: 260.28 Kb.

ABSTRACT

Recently, studies of human mitochondria caught attention of scientific community, for many reasons: they’ve been used as molecular anthropologic markers, useful for screening or research migratory and/or evolutionary movements; they’ve been implicated in many metabolic type genetic diseases, as well as in neurodegenerative diseases or anxiety disorders, and in carcinogenic or apopototic processes. Thirty-seven traits are associated with hereditary mitochondria, 16 of them are pathologies like Alzheimer and Parkinson diseases, and diabetes or deafness. Mitochondrial-caused diseases are a group of clinical, biochemical and genetic heterogenic entities, with complex diagnose due to several reasons: a) variability of clinic presentation: almost always associated with unexplained symptoms, neurological or extraneuromuscular, affecting unrelated organs; b) double genetic control (nuclear and mitochondrial) of electronic transportation chain constitutive complexes favor diseases’ complexity: even being hereditary diseases, occasionally emerge as sporadic cases, without familiar history; c) they haven’t established onset, can be neonatal or aged pathologies, and d) laboratory tests required to confirm them are specialized, and its technology sophisticated and complex. Here we present some basic concepts of biology, genetics and evolution of mitochondria, to better know and understand that its respiratory cell chain alterations have multi-systemic health consequences. We hope to contribute to understand its etiology and related factors. Until now there isn’t a therapy for mitochondrial syndromes, only palliative treatments. Perhaps they soon can be resolved through genetic therapy.

REFERENCES

1. Alberts B, Bray D, Lewis J, Raff M, et al. Molecular biology of the cell. 3rd ed. New York: Garland, 1995.

2. Anderson S, Bankier AT, Barrell BC, de Bruijn MHL, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290(5806):427-65.

3. Montoya J, Christianson T, Levens D, Rabinowitz M, et al. Identification of initiation sites for heavy-strand transcription in human mitochondrial DNA. Proc Natl Acad Sci 1982;79(23):7195-9.

4. Montoya J, Ojala D, Attardi G. Distinctive features of the 5’-terminal sequences of the human mitochondrial mRNAs. Nature 1981;290(5806):465-70.

5. Wallace DC, Singh G, Lott MT, Hodge JA, et al. Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy. Science 1988;242(4884):1427-30.

6. Holt IJ, Harding AE, Morgan-Hughes JS. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;38(6158):1339-46.

7. Zeviani M, Moraes CT, DiMauro S, Nakase H, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1998;51(6):1525-33.

8. Margulis L, Schwartz KV. Cinco reinos. Guía ilustrada de los phyla de la vida en la Tierra. Barcelona: Labor, 1985.

9. Andersson SGE, Karlberg O, Canbäck B, Kurland CG. On the origin of mitochondria: a genomics perspective. Philos Trans R Soc Lond B Biol Sci 2003;358(1429):165-79.

10. Lang BF, Gray MW, Burger G. Mitochondrial genome evolution and the origin of eukaryotes. Annu Rev Genet 1999;33:351-97.

11. Martin W, Muller M. The hydrogen hypothesis for the first eukaryote. Nature 1998;392(6671):37-41.

12. Martin W, Russell MJ. On the origins of cells: a hypothesis for the evolutionary transitions from abiotic geochemistry to chemoautotrophic prokaryotes, and from prokaryotes to nucleated cells. Philos Trans R Soc Lond B Biol Sci 2003;358(1429):59-85.

13. Baker SC, Ferguson SJ, Ludwig B, Page MD, et al. Molecular genetics of the genus Paracoccus: metabolically versatile bacteria with bioenergetic flexibility. Microbiol Mol Biol Rev 1998;62(4):1046-78.

14. Emelyanov VV. Mitochondrial connection to the origin of the eukaryotic cell. Eur J Biochem 2003;270(8):1599-618.

15. Anderson S, Bankier AT, Barrell BG, de Bruijn MH, et al. Sequence organization of the human mitochondrial genome. Nature 1981;290(5806):457-65.

16. Passarge E. Color atlas of genetics. 1st ed. New York: Thieme, 1995.

17. Sutovsky P, Moreno RD, Ramalho-Santos J, Dominko T, et al. Ubiquitin tag for sperm mitochondria. Nature 1999;402(6760):371-2.

18. Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992;61:1175-212.

19. Michikawa Y, Mazzucchelli F, Bresolin N, Scarlato G, et al. Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication. Science 1999;286(5440):774-9.

20. Miquel J. An update on the oxygen stress-mitrochondrial mutation theory of aging: genetic and evolutionary implications. Exp Gerontol 1998;33(1-2):113-26.

21. Wallace DC. Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance. Somat Cell Mol Genet 1986;12(1):41-49.

22. Zhang D, Ezekiel UR, Chang SW, Zassenhaus HP. Gene expression profile in dilated cardiomyopathy caused by elevated frequencies of mitochondrial DNA mutations in the mouse heart. Cardiovasc Pathol 2005;14(2):61-9.

23. Frerman Fe, Goodman SI. Defects of electron transfer flavoprotein and electron transfer flavoprotein-ubiquinone oxidoreductase: glutaric acidemia type II. In: Scriver CR, Williams SS, Childs B, Beaudet AL, et al. The metabolic & molecular basis of inherited disease. 8th ed. New York: McGraw-Hill, 2001;pp:2357-66.

24. Shoffner JM. Oxidative phosphorilation diseases. In: Scriver CR, Williams SS, Childs B, Beaudet AL, et al. The metabolic & molecular basis of inherited disease. 8th ed. New York: McGraw-Hill, 2001;pp:2367-424.

25. Munnich A, Rötig A, Cormier-Daire V, Rustin P. Clinical Presentation of Respiratory Chain Deficiency. In: Scriver CR, Williams SS, Childs B, Beaudet AL, et al. The metabolic & molecular basis of inherited disease. 8th ed. New York: McGraw-Hill, 2001;pp:2261-74.

26. Triepels RH, Van Den Heuvel LP, Trijbels JM, Smeitink JA. Respiratory chain complex I deficiency. Am J Med Genet 2001;106(1):37-45.

27. Man PY, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet 2002;39(3):162-9.

28. Robinson BH. Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect. Biochim Biophys Acta 1998;1364(2):271-86.

29. Grasbon-Frodl EM, Mehraein P. Sequence analysis of two nuclear encoded subunits (10 and 51 kDa) of mitochondrial complex I in Parkinson disease. Neurogenetics 2002;4(1):55-7.

30. Dionisi-Vici C, Ruitenbeek W, Fariello G, Bentlage H, et al. New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency. Ann Neurol 1997;42(4):661-5.

31. Pitkanen S, Feigenbaum A, Laframboise R, Robinson BH. NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings. J Inherit Metab Dis 1996;19(5):675-86.

32. Arpa J, Campos Y, Gutierrez-Molina M, Cruz-Martinez A, et al. Benign mitochondrial myopathy with decreased succinate cytochrome C reductase activity. Acta Neurol Scand 1994;90(4):281-4.

33. Riggs JE, Schochet SS Jr, Fakadej AV, Papadimitriou A, et al. Mitochondrial encephalomyopathy with decreased succinate-cytochrome c reductase activity. Neurology 1984;34(1):48-53.

34. Legros F, Chatzoglou E, Frachon P, Ogier de Baulny H, et al. Functional characterization of novel mutations in the human cytochrome b gene. Europ J Hum Genet 2001;9(7):510-8.

35. Keightley JA, Anitori R, Burton MD, Quan F, et al. Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. Am J Hum Genet 2000;67(6):1400-10.

36. Andreu AL, Checcarelli N, Iwata S, Shanske S, et al. A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy. Pediat Res 2000;48(3):311-4.

37. Castro-Gago M, Gonzalez-Conde V, Fernandez-Seara MJ, Rodrigo-Sáez E, et al. Encefalopatía mitocondrial precoz por deficiencia aislada del complejo IV compatible con el síndrome de Alpers-Huttenlocher: a propósito de dos observaciones. Rev Neurol 1999;29(10):912-17.

38. Saraste M. Oxidative phosphorylation at the fin de siecle. Science 1999;283(5407):1488-93.

39. Karp G. Biología celular y molecular. 1a ed. México: McGraw-Hill Interamericana, 1998.

40. De Coo IFM, Smeets HJM, Gabreels FJM, Arts N, et al. Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation. (Letter) Am J Hum Genet 1996;58: 636-38.