MİTOKONDRİYAL DNA VE KANSER

Abstract

Mitokondriyal DNA' nın, nükleer DNA' ya kıyasla mutasyonlara daha duyarlı olması ve tamir mekanizmalarının sınırlılığı nedeniyle karsinogenezde rol aldığı öne sürülmüştür. Bu derlemede tiroid, kolorektal, meme ve gastrik kanserlerde, mitokondriyal genom kararsızlığı, mitokondriyal DNA mutasyonlarının apoptozis ile ilişkisi ve mitokondriyal genomdaki değişimler değerlendirilmiştir.

Anahtar Kelimeler: Mitokondriyal DNA, Genomik kararsızlık, Apoptozis, Mutasyon, Solid tümörler

Keywords

• Mitokondriyal DNA, Genomik kararsızlık, Apoptozis, Mutasyon, Solid tümörler

References

1. Scheffler IE, Mitochondria, Wiley-Liss Publication, NY,
2. -
3. Anderson S, Bankier AT, Barrel BG, et al. Sequence and
4. organization of the human mitochondrial genome.
5. Nature 1981; 290: 457-465.
6. MITOMAP: A human mitochondrial genome database.
7. http://www.mitomap.org, 2006.
8. Kanki T, Nakayama H, Sasaki N, et al. Mitochondrial

9. nucleoid and transcription factor A. Ann NY Acad Sci
10. ; 1011: 61-68.
11. Larsen NB, Ramussen M, Ramussen LJ. Nuclear and
12. mitochondrial DNA repair: similar pathways?
13. Mitochondrion 2005; 5: 89-108.
14. DiMauro S. Mitochondrial diseases. Biochem Biophys
15. Acta 2004; 1658: 80-88.
16. Bohr VA. Repair of oxidative DNA damage in nuclear
17. and mitochondrial DNA, and some changes with aging
18. in mammalian cells. Free Radic Biol Med 2002; 32:
19. –812.
20. Ide H, Kow YW, Wallace SS. Thymine glycols and urea
21. residues in M13 DNA constitute replicative blocks in
22. vitro. Nucleic Acids Res 1985; 13: 8035–8052.
23. Grollman AP, Moriya M. Mutagenesis by 8-oxoguanine:
24. an enemy within. Trends Genet 1993; 9: 246–249.
25. Pinz KG, Shibutani S, Bogenhagen DF. Action of
26. mitochondrial DNA polymerase at sites of base loss or
27. oxidative damage. J Biol Chem 1995; 270: 9202–9206.
28. Loft S, Moller P. Oxidative DNA damage and human
29. cancer: need for cohort studies. Antioxid Redox Signal
30. ; 8: 1021-1031.
31. Reid R. Can migratory mitochondrial DNA activate
32. oncogenes. Trends Biochem 1983; 8: 190-191.
33. Richard SM, Bailliet G, Paez GL, et al. Nuclear and
34. mitochondrial genome instability in human breast
35. cancer. Cancer Res 2000; 60: 4231-4237.
36. Levin DE, Yamasaki E, Ames BN. A new Salmonella
37. tester strain, TA97, for the detection of frameshift
38. mutagens: a run of cytosines as a mutational hot-spot.
39. Mutat Res 1982; 94: 315–330.
40. Owen JE, Schultz DW, Taylor A, Smith GR. Nucleotide
41. sequence of the lysozyme gene of bacteriophage T4:
42. analysis of mutations involving repeated sequences. J
43. Mol Biol 1983; 165: 229–248.
44. Levinson G, Gutman GA. Slipped-strand mispairing: a
45. major mechanism for DNA sequence evolution. Mol
46. Biol Evol 1987; 4: 203–221.
47. Polyak K, Li Y, Zhu H, et al. Somatic mutations of the
48. mitochondrial genome in human colorectal tumours. Nat
49. Genet 1998; 20: 291–293.
50. Habano W, Nakamura SI, Sugai T. Microsatellite
51. instability in the mitochondrial DNA of colorectal
52. carcinomas: evidence for mismatch repair systems in
53. mitochondrial genome. Oncogene 1998; 17: 1931–1937.
54. Habano W, Sugai T, Yoshida T, Nakamura SI.
55. Mitochondrial gene mutation, but not large-scale
56. deletion, is a feature of colorectal carcinomas with
57. mitochondrial microsatellite instability. Int J Cancer
58. ; 83: 625–629.
59. Bianchi MS, Bianchi NO, Bailliet G. Mitochondrial
60. DNA mutations in normal and tumor tissues from breast
61. cancer patients. Cytogenet Cell Genet 1995; 71: 99–103.
62. Cortopassi GA, Arnheim N. Detection of a specific
63. mitochondrial DNA deletion in tissues of older
64. individuals. Nuc Acids Res 1990; 18: 6927–6933.
65. Livneh Z. Directed mutagenesis method for analysis of
66. mutagen specificity: application to ultraviolet-induced
67. mutagenesis. Proc Natl Acad Sci USA 1983; 80: 237–
68. -
69. Flanagan JG, Lefranc MP, Rabbitts TH. Mechanisms of
70. divergence and convergence of the human
71. immunoglobulin α-1 and α-2 constant region gene
72. sequences. Cell 1984; 36: 681–688.
73. Kunkel TA. The mutational specificity of DNA
74. polymerase-beta during in vitro DNA synthesis:
75. production of frameshift, base substitution, and deletion
76. mutations. J Biol Chem 1985; 260: 5787–5796.
77. Burgart LJ, Zheng J, Shu Q, et al. Somatic
78. mitochondrial mutation in gastric cancer. Am J Pathol
79. ; 147: 1105–1111.
80. De la Chapelle A, Peltomaki P. The genetics of
81. hereditary common cancers. Curr Opin Genet Dev 1998;
82. : 298-303.
83. Peltomaki P. DNA mismatch repair and cancer. Rev
84. Mutat Res 2001; 488: 77-85.
85. Clayton DA. Replication of animal mitochondrial DNA.
86. Cell 1982; 28: 693–705.
87. Kunkel TA, Alexander PS. The base substitution fidelity
88. of eucaryotic DNA polymerases. Mispairing frequencies,
89. site preferences, insertion preferences, and base
90. substitution by dislocation. J Biol Chem 1986; 261: 160–
91. -
92. Pinz KG, Shibutani S, Bogenhagen DF. Action of
93. mitochondrial DNA polymerase γ at sites of base loss or
94. oxidative damage. J Biol Chem 1995; 270: 9202–9206.
95. Faraj A, Fowler DA, Bridges EG, Sommadossi JP.
96. Effects of 2′,3′-dideoxynucleosides on proliferation and
97. differentiation of human pluripotent progenitors in liquid
98. culture and their effects on mitochondrial DNA
99. synthesis. Antimicrob Agents Chemother 1994; 38: 924–
100. -
101. Lewis W, Dalakas MC. Mitochondrial toxicity of
102. antiviral drugs. Nat Med 1995; 1: 417–422.
103. Ropp PA, Copeland WC. Cloning and characterization
104. of the human mitochondrial DNA polymerase γ.
105. Genomics 1996; 36: 449–458.
106. Zeviani M, Servidei S, Gellera C, et al. An autosomal
107. dominant disorder with multiple deletions of
108. mitochondrial DNA starting at the D-loop region. Nature
109. ; 339: 309–311.
110. Lee MS, Kim JA, Park SY. Resistance of ro cells against
111. apoptosis. Ann NY Acad Sci 2004; 1011: 146-153.
112. Liu CY, Lee CF, Hong CH, Wei YH. Mitochondrial
113. DNA mutation and depletion increase the susceptibility
114. of human cells to apoptosis. Ann NY Acad Sci 2004;
115. : 133-145.
116. Shidara Y, Yamagata K, Kanamori T, et al. Positive
117. contribution of pathogenic mutations in the
118. mitochondrial genome to the promotion of cancer by
119. prevention from apoptosis. Cancer Res 2005; 65: 1655-
120. -
121. Schoeler S, Szibor R, Gellerich FN, et al. Mitochondrial
122. DNA deletions sensitize cell to apoptosis at low
123. heteroplasmy levels. Biochem Biophys Res Commun
124. ; 332: 43-49.
125. -
126. Marmara Medical Journal 2007;20(2);127-136
127. Cenk Aral, et al
128. Mitochondrial DNA and cancer
129. Mott JL, Zhang D, Stevens M, et al. Oxidative stress is
130. not an obligate mediator of disease provoked by
131. mitochondrial DNA mutations. Mutat Res 2001; 474:
132. –45.
133. Park SY, Chang I, Kim JY, et al. Resistance of
134. mitochondrial DNA-depleted cells against cell death:
135. role of mitochondrial superoxide dismutase. J Biol Chem
136. ; 279: 7512–7520.
137. Jacques C, Chevrollier A, Loiseau D, et al. mtDNA
138. controls expression of the death associated protein 3.
139. Exp Cell Res 2006; 312: 737-745.
140. Yeh JJ, Lunetta KL, van Orsouw NJ, et al. Somatic
141. mitochondrial DNA (mtDNA) mutations in papillary
142. thyroid carcinomas and differential mtDNA sequence
143. variants in cases with thyroid tumours. Oncogene 2000;
144. : 2060–2066.
145. Maximo V, Soares P, Lima J, et al. Mitochondrial DNA
146. somatic mutations (point mutations and large deletions)
147. and mitochondrial DNA variants in human thyroid
148. pathology: a study with emphasis on Hurtle cell tumors.
149. Am J Pathol 2002; 160: 1857-1865.
150. Rogounovitch TI, Saenko VA, Shimizu-Yoshida Y, et
151. al. Large deletions in mitochondrial DNA in radiationassociated
152. human thyroid tumors. Cancer Res 2002; 62:
153. -7041.
154. Tong BC, Ha PK, Dhir K, et al. Mitochondrial DNA
155. alteations in thyroid cancer. J Surg Oncol 2003; 82: 170-
156. -
157. Lohrer HD, Hieber L, Zitzelsberger H. Differential
158. mutation frequency in mitochondrial DNA from thyroid
159. tumors. Carcinogenesis 2002; 23: 1577-1582.
160. Maximo V, Lima J, Soares P, et al. Mitochondrial Dloop
161. instability in thyroid tumors is not a marker of
162. malignancy. Mitochondrion 2005; 5: 333-340.
163. Aikhionbare FO, Khan M, Carey D, et al. Is cumulative
164. frequency of mitochondrial DNA variants a biomarker
165. for colorectal tumor progression? Mol Cancer 2004;
166. :30.
167. Nishikawa M, Oshitani N, Matsumoto T, et al.
168. Accumulation of mitochondrial DNA mutation with
169. colorectal carcinogenesis in ulcerative colitis. Br J
170. Cancer 2005; 93: 331-337.
171. Greaves LC, Preston SL, Tadrous PJ, et al.
172. Mitochondrial DNA mutations are established in human
173. colonic stem cells, and mutated clones expand by crypt
174. fission. Proc Natl Acad Sci 2006; 103: 714-719.
175. Lee HC, Yin PH, Lin JC, et al. Mitochondrial genome
176. instability and mtDNA depletion in human cancers. Ann
177. NY Acad Sci 2005; 1042: 109-122.
178. Kose K, Hiyama T, Tanaka S, et al. Somatic mutations
179. of mitochondrial DNA in digestive tract cancers. J
180. Gastroenterol Hepatology 2005; 20: 1679-1684.
181. Lievre A, Chapusot C, Bouvier AM, et al. Clinical value
182. of mitochondrial mutations in colorectal cancer. J Clin
183. Oncol 2005; 23: 3517-3525.
184. Aral C, Kaya H, Ataizi-Çelikel Ç, et al. A novel
185. approach for rapid screening of mitochondrial D310
186. polymorphism. BMC Cancer 2006; 6:21.
187. Tan DJ, Bai RK, Wong LJC. Comprehensive scanning
188. of somatic mitochondrial DNA mutations in breast
189. cancer. Cancer Res 2002; 62: 972-976.
190. Parrella P, Xiao Y, Fliss M, et al. Detection of
191. mitochondrial DNA mutations in primary breast cancer
192. and fine-needle aspirates. Cancer Res 2001; 61: 7623-
193. -
194. Parrella P, Seripa D, Matera MG, et al. Mutations of the
195. D310 mitochondrial mononucleotide repeat in primary
196. tumors cytological specimens. Cancer Lett 2003; 190:
197. -77.
198. Isaacs C, Cavalli LR, Cohen Y, et al. Detection of LOH
199. and mitochondrial DNA alterations in ductal lavage and
200. nipple aspirate fluids from high-risk patients. Breast
201. Cancer Res Treat 2004; 84: 99-105.
202. Zhu W, Qin W, Sauter ER. Large-scale mitochondrial
203. mutations and nuclear genome instability in human
204. breast cancer. Cancer Detect Prevent 2004; 28: 119-126.
205. Dani MAC, Dani SU, Lima SPG, et al. Less
206. ∆mtDNA4977 than normal in various types of tumors
207. suggests that cancer cells are essentially free of this
208. mutation. Genet Mol Res 2004; 3: 395-409.
209. Tamura G, Nishizuka S, Maesawa C, et al. Mutations in
210. mitochondrial control region DNA in gastric tumors of
211. Japanese patients. Eur J Cancer 1999; 35: 316-319.
212. Maximo V, Soares P, Seruca R, Sobrinho-Simoes M.
213. Comments on: Mutations in mitochondrial control
214. region DNA in gastric tumors of Japanese patients,
215. Tamura, et al. Eur J Cancer 1999, 35, 316-319. Eur J
216. Cancer 1999; 35: 1407-1408.
217. Han CB, Li F, Zhao YJ, Ma JM, et al. Variations of
218. mitochondrial D-loop region plus downstream gene 12S
219. rRNA-tRNAphe and gastric carcinomas. World J
220. Gastroenterol 2003; 9: 1925-1929.
221. Zhao YB, Yang HY, Zhang XW, Chen GY. Mutation in
222. D-loop region of mitochondrial DNA in gastric cancer
223. and significance. World J Gastroenterol 2005; 11: 3304-
224. -
225. Wu CW, Yin PH, Hung WY, et al. Mitochondrial DNA
226. mutations and mitochondrial DNA depletion in gastric
227. cancer. Genes Chromosomes Cancer 2005; 44:19-28.
228. Carew JS, Huang P. Mitochondrial defects in cancer.
229. Mol Cancer 2002; 1: 9.
230. Penta JS, Johnson FM, Wachsman JT, Copeland WC.
231. Mitochondrial DNA in human malignancy. Mutat Res
232. ; 488: 119-133.