The first pathogenic mitochondrial methionine tRNA point mutation is discovered in splenic lymphoma

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Lombes A ^a   Bories, D ^b   Girodon, E ^b   Frachon, P ^a   Ngo, M M ^b   Breton Gorius, J ^b   Tulliez, M ^b   Goossens, M ^b  

^a INSERM   (France)

^b HENRI MONDOR HOSPITAL   (France)

Author keywords

DGGE; Mitochondrial DNA; Respiratory chain defect; Rho0 cells; rRNA point mutation; Splenic lymphoma

Indexed keywords

METHIONINE; MITOCHONDRIAL DNA; TRANSFER RNA; CYTOCHROME C OXIDASE; METHIONINE TRANSFER RNA;

AGED; ARTICLE; CARCINOGENESIS; CASE REPORT; CELL INCLUSION; GENE LOCATION; HUMAN; LYMPHOMA; MALE; MITOCHONDRIAL RESPIRATION; PHYLOGENY; POINT MUTATION; PRIORITY JOURNAL; SPLEEN TUMOR; CELL LINE; CHEMISTRY; ENZYMOLOGY; GENETICS; IMMUNOHISTOCHEMISTRY; MITOCHONDRION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SEQUENCE HOMOLOGY; SKELETAL MUSCLE;

AGED; BASE SEQUENCE; CELL LINE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX IV; HUMANS; IMMUNOHISTOCHEMISTRY; LYMPHOMA; MALE; MITOCHONDRIA; MUSCLE, SKELETAL; POINT MUTATION; RNA, TRANSFER, MET; SEQUENCE HOMOLOGY, NUCLEIC ACID; SPLENIC NEOPLASMS;

EID: 0031965597     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110158     Document Type: Article

References (32)

1. Ames BN, Shigenaga MK, Hagen TM (1993) Oxidants, antioxidants, and the degenerative diseases of aging. Proc Nad Acad Sci USA 90:7915-7922.
2. Anderson S, Bankier AT, Barrel BG, De Bruijn MHL, Coulson AR, Drouin J, Eperson IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG (1981) Sequence and organization of the human mitochondrial genome. Nature 290:457-465.
3. Bader-Meunier B, Rotig A, Mielot F, Lavergne JM, Croisille L, Rustin P, Landrieu P, Dommergues JP, Munnich A, Tchernia G (1994) Refractory anaemia and mitochondrial cytopathy in childhood. BrJHaematol 87:381-385.
4. Bandy B, Davidson AJ (1990) Mitochondrial mutations may increase oxidative stress: Implications for carcinogenesis. Free Radical Biol Med 8:523-539.
5. Berger G, Caen JP, Berndt MC, Martin-Cramer E (1993) Ultrastruc-tural demonstration of CD36 in the alpha-granule membrane of human platelets and megacaryocytes. Blood 82:3034-3044.
6. Brown WM (1980) Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis. Proc Natl Acad Sci USA 77:3605-3609.
7. Cann RL, Stoneking M, Wilson AC (1987) Mitochondrial DNA and human evolution. Nature 325:31-36.
8. Chen LB (1988) Mitochondrial membrane potential in living cells. Annu Rev Cell Biol 4:155-181.
9. Davis LG, Dibner MD, Battey JF (1986) Basic Methods in Molecular Biology. New York: Elsevier.
10. DiMauroS, MoraesCT (1993) Mitochondrial encephalomyopathies. Arch Neurol 50:1197-1208.
11. Drouin J (1980) Cloning of human mitochondrial DNA in Escheri-chiacoii. JMol Biol 140:15-34.
12. Dubowitz V, Brooke MH (1973) Muscle biopsy: A modern approach. Philadelphia: WB Saunders.
13. Enriquez JA, Chomyn A, Attardi G (1995) mtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNAlys and premature translation termination. Nature Genet 10:47-55.
14. Gonzalez IL, GorskiJL, CampenTJ, Dorney DJ, Erickson JM, Sylvester JE, Schmickel RD (1985) Variation among human 28S ribosomal RNA genes. Proc Natl Acad Sci USA 82:7666-7670.
15. GyllenstenUB, ErlichHA (1988) Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus. Proc Natl Acad Sci USA 85:7652-7656.
16. Hatfill SJ, Bohm L, Downing TG, Kirby R (1992) Mitochondrial DNA mutations in the myelodysplastic syndrome. Lancet 340:370.
17. Hatfill SJ, La Cock CJR, Laubscher R, Downing TG, Kirby R (1993) A role for mitochondrial DNA in the pathogenesis of radiation-induced myelodysplasia and secondary leukemia. Leukemia Res 17:907-913.
18. Jackson MJ, Schaefer JA, Johnson MA, Morris AAM, Turnbull DM, Bindoff MA (1995) Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients. Brain 118:339-357.
19. Jadayel D, Matutes E, Dyer MJS, Brito-Babapulle V, Khohkar MT, Oscier D, Catovsky D (1994) Splenic lymphoma with villous lymphocytes: Analysis of Bell rearrangements and expression of the cyclin Dl gene. Blood 83:3664-3671.
20. King MP, Attardi G (1988) Injection of mitochondria into human cells leads to rapid replacement of the endogenous mitochondrial DNA. Cell 32:811-619.
21. Moraes CT, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda A, Nakase H, Bonilla E, Werneck LC, Seryidei S, Nonaka I, Koga Y, Spiro AJ, Brownell KW, Schmidt B, Schotland DL, Zupanc M, DeVivo DC, Schon EA, Rowland LP (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320:1293-1299.
22. Myers RM, Lumelsky N, Lerman LS, Maniatis T (1985) Detection of single base substitutions in total genomic DNA. Proc Natl Acad SciUSA813:495-498.
23. Possekel S, Lombes A, Ogier de Baulny H, Cheval MA, Fardeau M, Kadenbach B, Romero BN (1995) Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in children. His-tochemistry 103:59-68.
24. Robinson BH, Ward J, Goodyer P, Baudet A (1986) Respiratory chain defects in the mitochondria of cultured skin fibroblasts from three patients with lacticacidemia. J Clin Invest 77:1422-1427.
25. Rotig A, Cormier V, Blanche S, Bonnefont JP, Ledeist F, Romero N, Schmitz J, Rustin P, Fischer A, Saudubray JM, Munnich A (1990) Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 86:1601-1608.
26. Rustin P, Chretien D, Bourgeron T, Gerard B, Rotig A, Saudubray M, Munnich A (1994) Biochemical and molecular investigations in respiratory chain deficiencies. Clin Chim Acta 228:35-51.
27. Saiki RK, Gelfand DH, Stoffel S, Scharf S, Higushi R, Horn GT, Mullis KB (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487-491.
28. Seligman AM, Karnovsky MJ, Wasserkrug HL, Hanker JS (1968) Non-droplet ultrastructural demonstration of cytochrome oxidase activity with a polymerising osmiophilic reagent, diaminobenzidine (DAB). I Cell Biol 38:1-14.
29. Shoffner LM, Lott MT, Lezza AMS, Seibel P, Ballinger SW, Wallace DC (1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNAlys mutation. Cell 61:931-937.
30. Sprinzl M, HartmannT, Weber J, Blank J, Zeidler R (1989) Compilation of tRNA sequences and sequences of tRNA. Nucleic Acids Res 17(suppl.):rl-rl72.
31. Srere PA (1969) Citrate synthase. Methods Enzymol 13:3-11.
32. Wallace DC (1994) Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci USA 91:8739-8746.