Homosplasmic MELAS A3243G mtDNA mutation in a colon cancer sample

Mitochondrion

Volumn 3, Issue 2, 2003, Pages 119-124

  Lorenc, Anna ^a   Bryk, Jaros ^b   Golik, Paweł ^b,c   Kupryjańczyk, Jolanta ^d   Ostrowski, Jerzy ^e   Pronicki, Maciej ^f   Semczuk, Andrzej ^g   Szołkowska, Małgorzata ^h   Bartnik, Ewa ^b,c  

^a POSTGRADUATE SCHOOL OF MOLECULAR MEDICINE   (Poland)

^b UNIVERSITY OF WARSAW   (Poland)

^c INSTITUTE OF BIOCHEMISTRY AND BIOPHYSICS   (Poland)

^d INSTITUTE OF ONCOLOGY   (Poland)

^e MEDICAL CENTER FOR POSTGRADUATE EDUCATION   (Poland)

^f CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^g MEDICAL UNIVERSITY OF LUBLIN   (Poland)

^h NATIONAL TUBERCULOSIS AND LUNG DISEASES RESEARCH INSTITUTE   (Poland)

Author keywords

Cancer; Homoplasmy; MELAS; Somatic mutation; tRNA

Indexed keywords

MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; RIBOSOME RNA; TRANSFER RNA;

ARTICLE; COLON CANCER; COLON CARCINOGENESIS; CONTROLLED STUDY; DNA DETERMINATION; DNA POLYMORPHISM; GENE MUTATION; GENETIC VARIABILITY; HOMOPLASY; HUMAN; HUMAN CELL; MELAS SYNDROME; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RESPIRATORY FAILURE;

EID: 0141433448     PISSN: 15677249     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1567-7249(03)00106-5     Document Type: Article

References (54)

1. Anderson S. Bankier A.T. Barrell B.G. de Bruijn M.H. Coulson A.R. Drouin J. Sequence and organization of the human mitochondrial genome Nature 290 1981 457-465
2. Andrews R.M. Kubacka I. Chinnery P.F. Lightowlers R.N. Turnbull D.M. Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA [letter] Nat. Genet. 23 1999 147
3. Cahill D.P. Kinzler K.W. Vogelstein B. Lengauer C. Genetic instability and Darwinian selection in tumours Trends Cell Biol. 9 1999 M57-M60
4. Cardaioli E. Dotti M.T. Hayek G. Zappella M. Federico A. Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835 [letter] J. Submicrosc. Cytol. Pathol. 31 1999 301-304
5. Carew J.S. Huang P. Mitochondrial defects in cancer Mol. Cancer 1 2002 9
6. Cavalli L.R. Varella-Garcia M. Liang B.C. Diminished tumorigenic phenotype after depletion of mitochondrial DNA Cell Growth Differ. 8 1997 1189-1198
7. Chester K.A. Robson L. Begent R.H. Pringle H. Primrose L. Talbot I.C. In situ and slot hybridization analysis of RNA in colorectal tumours and normal colon shows distinct distributions of mitochondrial sequences J. Pathol. 162 1990 309-315
8. Chinnery P.F. Howell N. Lightowlers R.N. Turnbull D.M. Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes Brain 120 1997 1713-1721
9. Chomyn A. Enriquez J.A. Micol V. Fernandez-Silva P. Attardi G. The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes J. Biol. Chem. 275 2000 19198-19209
10. Coller H.A. Khrapko K. Bodyak N.D. Nekhaeva E. Herrero-Jimenez P. Thilly W.G. High frequency of homoplasmic mitochondrial DNA mutations in human tumors can be explained without selection Nat. Genet. 28 2001 147-150
11. Damian M.S. Seibel P. Schachenmayr W. Reichmann H. Dorndorf W. VACTERL with the mitochondrial np 3243 point mutation Am. J. Med. Genet. 62 1996 398-403
12. El Meziane A. Lehtinen S.K. Hance N. Nijtmans L.G. Dunbar D. Holt I.J. A tRNA suppressor mutation in human mitochondria Nat. Genet. 18 1998 350-353
13. El Meziane A. Lehtinen S.K. Holt I.J. Jacobs H.T. Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation Hum. Mol. Genet. 7 1998 2141-2147
14. Fliss M.S. Usadel H. Caballero O.L. Wu L. Buta M.R. Eleff S.M. Facile detection of mitochondrial DNA mutations in tumors and bodily fluids Science 287 2000 2017-2019
15. Gimm O. Armanios M. Dziema H. Neumann H.P. Eng C. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma Cancer Res. 60 2000 6822-6825
16. Leu(UUR) gene in a family with mitochondrial myopathy Ann. Neurol. 31 1992 672-675
17. Guppy M. The hypoxic core: a possible answer to the cancer paradox Biochem. Biophys. Res. Commun. 299 2002 676-680
18. Hayashi J. Takemitsu M. Nonaka I. Recovery of the missing tumorigenicity in mitochondrial DNA-less HeLa cells by introduction of mitochondrial DNA from normal human cells Somat. Cell Mol. Genet. 18 1992 123-129
19. Leu(UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies Aust. NZ J. Med. 24 1994 188-193
20. Johns D.R. Berman J. Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy Biochem. Biophys. Res. Commun. 174 1991 1324-1330
21. Leu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes Mol. Cell Biol. 12 1992 480-490
22. Luciakova K. Kuzela S. Increased steady-state levels of several mitochondrial and nuclear gene transcripts in rat hepatoma with a low content of mitochondria Eur. J. Biochem. 205 1992 1187-1193
23. Lynn S. Wardell T. Johnson M.A. Chinnery P.F. Daly M.E. Walker M. Mitochondrial diabetes: investigation and identification of a novel mutation Diabetes 47 1998 1800-1802
24. Macaulay V. Richards M. Hickey E. Vega E. Cruciani F. Guida V. The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs Am. J. Hum. Genet. 64 1999 232-249
25. Mansergh F.C. Millington-Ward S. Kennan A. Kiang A.S. Humphries M. Farrar G.J. Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene Am. J. Hum. Genet. 64 1999 971-985
26. Leu(UUR) mutation associated with maternally inherited myopathy and cardiomyopathy J. Clin. Invest. 93 1994 1102-1107
27. Mariotti C. Savarese N. Suomalainen A. Rimoldi M. Comi G. Prelle A. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA J. Neurol. 242 1995 304-312
28. Modica-Napolitano J.S. Singh K.K. Mitochondria as targets for detection and treatment of cancer Exp. Rev. Mol. Med. April 2002 http://www-ermm.cbcu.cam.ac.uk/02004453h.htm
29. Leu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle Am. J. Hum. Genet. 50 1992 934-949
30. Moraes C.T. Ciacci F. Silverstri G. Shanske S. Sciacco M. Hirano M. Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA Neuromuscul. Disord. 3 1993 43-50
31. Morais R. Zinkewich-Peotti K. Parent M. Wang H. Babai F. Zollinger M. Tumor-forming ability in athymic nude mice of human cell lines devoid of mitochondrial DNA Cancer Res. 54 1994 3889-3896
32. Mroczek-Tonska K. Ratajska D. Guillot C. Sasiadek M. Ambroziak A. Lubos L. Heteroplasmy analysis in the Polish patients with 11778A mutation responsible for Leber hereditary optic neuropathy Acta. Biochim. Pol. 49 2002 257-262
33. Nekhaeva E. Bodyak N.D. Kraytsberg Y. et al. Clonally expanded mtDNA point mutations are abundant in individual cells of human tissues Proc. Natl Acad. Sci. USA 99 2002 5521-5526
34. Olsson C. Zethelius B. Lagerstrom-Fermer M. Asplund J. Berne C. Landegren U. Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness Hum. Mutat. 12 1998 52-58
35. van den Ouweland J.M. Bruining G.J. Lindhout D. Wit J.M. Veldhuyzen B.F. Maassen J.A. Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia Nucleic Acids Res. 20 1992 679-682
36. Pang C.Y. Lee H.C. Wei Y.H. Enhanced oxidative damage in human cells harboring A3243G mutation of mitochondrial DNA: implication of oxidative stress in the pathogenesis of mitochondrial diabetes Diabetes Res. Clin. Pract. 54 2001 S45-S56
37. Park H. Davidson E. King M.P. The pathogenic A3243G mutation in human mitochondrial tRNALeu(UUR) decreases the efficiency of aminoacylation Biochemistry 42 2003 958-964
38. Parrella P. Xiao Y. Fliss M. et al. Detection of mitochondrial DNA mutations in primary breast cancer and fine-needle aspirates Cancer Res. 61 2001 7623-7626
39. Penta J.S. Johnson F.M. Wachsman J.T. Copeland W.C. Mitochondrial DNA in human malignancy Mutat. Res. 488 2001 119-133
40. Polyak K. Li Y. Zhu H. et al. Somatic mutations of the mitochondrial genome in human colorectal tumours Nat. Genet. 20 1998 291-293
41. Rockwell S. Yuan J. Peretz S. Glazer P.M. Genomic instability in cancer Novartis Found. Symp. 240 2001 133-142
42. Sambrook J. Russell D.W. Molecular Cloning. A Laboratory Manual 3rd Edition 2001 Cold Spring Harbor Laboratory Press Cold Spring Harbor, NY
43. Savagner F. Franc B. Guyetant S. Rodien P. Reynier P. Malthiery Y. Defective mitochondrial ATP synthesis in oxyphilic thyroid tumors J. Clin. Endocrinol. Metab. 86 2001 4920-4925
44. Sharp M.G. Adams S.M. Walker R.A. Brammar W.J. Varley J.M. Differential expression of the mitochondrial gene cytochrome oxidase II in benign and malignant breast tissue J. Pathol. 168 1992 163-168
45. Silvestri G. Bertini E. Servidei S. Rana M. Zachara E. Ricci E. Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt 3243 of mitochondrial DNA (MELAS mutation) Muscle Nerve 20 1997 221-225
46. Silvestri G. Rana M. DiMuzio A. Uncini A. Tonali P. Servidei S. A late-onset mitochondrial myopathy is associated with a novel mtDNApoint mutation in the tRNA(Trp) gene Neuromuscul. Disord. 8 1998 291-295
47. Simonnet H. Alazard N. Pfeiffer K. Gallou C. Beroud C. Demont J. Low mitochondrial respiratory chain content correlates with tumor aggressiveness in renal cell carcinoma Carcinogenesis 23 2002 759-768
48. Singh K.K. Mitochondrial DNA Mutations in Aging, Disease and Cancer 1998 Springer New York
49. Singh K.K. Russell J. Sigala B. Zhang Y. Williams J. Keshav K.F. Mitochondrial DNA determines the cellular response to cancer therapeutic agents Oncogene 18 1999 6641-6646
50. Stone D.L. Biesecker L.G. Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association [letter; comment] Am. J. Med. Genet. 72 1997 237-238
51. Wallace, D.C., Lott, M.T., Brandon, M., Brown, M.D., Navathe, S.B., 2003. MITOMAP: a human mitochondrial genome database. http://www.mitomap.org.
52. Warburg O. Metabolism of Tumours 1930 Arnold Constable London, UK
53. Warburg O. On the origin of cancer cells Science 123 1956 309-314
54. Yasukawa T. Suzuki T. Ishii N. Ueda T. Ohta S. Watanabe K. Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation FEBS Lett. 467 2000 175-178