Stable transformation of CHO cells and human NARP cybrids confers oligomycin resistance (olir) following transfer of a mitochondrial DNA-encoded olir ATPase6 gene to the nuclear genome: A model system for mtDNA gene therapy

Rejuvenation Research

Volumn 8, Issue 1, 2005, Pages 18-28

  Zullo, S J ^a,b,e   Parks, W T ^c   Chloupkova, M ^b   Wei, B ^d   Weiner, H ^d   Fenton, W A ^b   Eisenstadt, J M ^b   Merril, C R ^a  

^a NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d PURDUE UNIVERSITY   (United States)

^e NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MITOCHONDRIAL DNA; OLIGOMYCIN;

AGING; ANIMAL CELL; ARTICLE; CELL TRANSFORMATION; CHO CELL; CONTROLLED STUDY; CYTOPLASM; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE MUTATION; GENE THERAPY; GENE TRANSFER; GENETIC CODE; GENOME ANALYSIS; NARP SYNDROME; NONHUMAN; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RNA TRANSLATION;

ANIMALS; CHO CELLS; CRICETINAE; DNA, MITOCHONDRIAL; GENE THERAPY; GENE TRANSFER TECHNIQUES; LEIGH DISEASE; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; OLIGOMYCINS; PLASMIDS; PROTEIN BIOSYNTHESIS; TRANSGENES;

ANIMALIA; ATAXIA; CRICETINAE; CRICETULUS GRISEUS; MAMMALIA;

EID: 16844381561     PISSN: 15491684     EISSN: None     Source Type: Journal    
DOI: 10.1089/rej.2005.8.18     Document Type: Article

References (46)

1. Wallace DC. Mitochondrial genes and disease. Hosp Prac 1986;21:77-92.
2. Neupert WF, Hartl U, Craig EA, et al. How do polypeptides cross the mitochondrial membranes? Cell 1990;63:447-450.
3. Wallace DC. Mitochondrial diseases in man and mouse. Science 1999;283:1482-1488.
4. Bresolin N, Angelini C, Doriguzzi C, et al. Ubide-carenone in mitochondrial myopathies: Double-blind multicentric trial. Neurology 1989;39:259.
5. Desnuelle C, Pellissier JF, Serratrice G, et al. Chronic progressive external ophthalmoplegia (CPEO) associated with diaphragm paralysis: Successful treatment with coenzyme Q (CoQ). Neurology 1988;38:102.
6. Ihara Y, Namba R, Kuroda S, et al. Mitochondrial encephalomyopathy (MELAS): pathological study and successful therapy with coenzyme Q10 and idebenone. J Neurol Sci 1989;90:263-271.
7. 31P NMR study. Neurology 1989;39:399-403.
8. Ogasahara S, Yorijuji S, Nishikawa Y, et al. Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. Neurology 1985;35:372-377.
9. Ogasahara S, Nishikawa Y, Yorijuji S, et al. Treatment of Kearns-Sayre syndrome with coenzyme Q10. Neurology 1986;36:45-53.
10. Shoffner JM, Voljavec AS, Costigan DA, et al. Chronic external ophthalmoplegia and ptosis (CEOP): Improved retinal cone function with ascorbate, phylloquinone, and coenzyme Q10. Neurology 1989;39:404.
11. Shoffner JM, Voljavec AS, Costigan DA, et al. Kearns-Sayre syndrome: A mitochondrial DNA deletion with coenzyme Q10 and succinate treatment response. Neurology 1989;39:256.
12. Graff C, Clayton DA, Larsson NG. Mitochondrial medicine-recent advances. J Int Med 1999;246:11-23.
13. Moraes CT. Book review of Genetics of Mitochondrial Diseases. Am J Hum Genet 2004;75:733.
14. Seibel P, Trappe J, Villani G, et al. Transfection of mitochondria: strategy towards a gene therapy of mitochondrial DNA diseases. Nucleic Acids Res 1995;23:10-17.
15. Seibel M, Bachmann C, Schmiedel J, et al. Processing of artificial peptide-DNA-conjugates by the mitochondrial intermediate peptidase (MIP). Biol Chem 1999;380:961-970.
16. Gross NJ, Getz GS, Rabinowitz, M. Apparent turnover of mitochondrial deoxyribonucleic acid and mitochondrial phospholipids in the tissues of the rat. J Biol Chem 1969;244:1552-1562.
17. Kadenbach B, Müller-Höcker J. Mutations of mitochondrial DNA and human death. Naturwissenschaften 1990;77:221-225.
18. Harman D. The biologic clock: the mitochondria? J Am Geriatr Soc 1972;20:145-147.
19. Li-Sucholeiki, XC, Khrapko K, Andre PC, et al. Applications of constant denaturant capillary electrophoresis/high-fidelity polymerase chain reaction to human genetic analysis. Electrophoresis 1999;20:1224-1232.
20. Khrapko K, Bodyak N, Thilly WG, et al. Cell-by-cell scanning of whole mitochondrial genomes in aged human heart reveals a significant fraction of myocytes with clonally expanded deletions. Nucleic Acids Res 1999;27:2434-2441.
21. Gearing DP, Nagley P. Yeast mitochondrial ATPase subunit 8, normally a mitochondrial gene product, expressed in vitro and imported back into the organelle. EMBO J 1986;5:3651-3655.
22. Nagley P, Farrell LB, Gearing DP, et al. Assembly of functional proton-translocating ATPase complex in yeast mitochondria with cytoplasmically synthesized subunit 8, a polypeptide normally encoded within the organelle. Proc Natl Acad Sci USA 1988;85:2091-2095.
23. Lander ES, Lodish H. Mitochondrial diseases: Gene mapping and gene therapy. Cell 1990;61:925-926.
24. Manfredi G, Fu J, Ojaimi J, et al. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Nat Genet 2002;30:394-399.
25. Guy J, Qi X, Pallotti F, et al. Rescue of a mitochondrial deficiency causing Leber's Hereditary Optic Neuropathy. Ann Neurol 2002;52:534-542.
26. Tsukihara T, Shimokata K, Katayama Y, et al. The low-spin heme of cytochrome c oxidase as the driving element of the proton-pumping process. Proc Natl Acad Sci USA 2003;100:15304-15309.
27. Bigger B, Taylor RW, Turnbull DM, et al. Gene therapy for mitochondrial DNA disorders. In: Holt IJ, ed. Genetics of Mitochondrial Disease. New York: Oxford University Press, 2003:325-344.
28. Breen GA, Miller DL, Holmans PL, et al. Mitochondrial DNA of two independent oligomycin-resistant Chinese hamster ovary cell lines contains a single nucleotide change in the ATPase 6 gene. J Biol Chem 1986;261:11680-11685.
29. Kozak M. An analysis of 5′-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res 1987;15:8125-8148.
30. Horwich AL, Kalousek F, Mellman I, et al. A leader peptide is sufficient to direct mitochondrial import of a chimeric protein. EMBO J 1985;4:1129-1135.
31. Zullo SJ, Eisenstadt JM, Fenton WA. Genetic therapy of mitochondrial DNA defects via import of the corrected protein from the cytoplasm. Fed Reg 1999;64:38677.
32. Zullo SJ. Gene therapy of mitochondrial DNA mutations: a brief, biased history of allotopic expression in mammalian cells. Semin Neurol 2001;21:327-355.
33. Kolansky DM, Conboy JG, Fenton WA, et al. Energy-dependent translocation of the precursor of ornithine transcarbamylase by isolated rat liver mitochondria. J Biol Chem 1982;257:8467-8471.
34. Glick B, Pon LA. Isolation of highly purified mitochondria from Saccharomyces cerevisiae. Methods Enzymol 1995;260:213-223.
35. Hammen PK, Waltner M, Hahnemann B, et al. The role of positive charges and structural segments in the presequence of rat liver aldehyde dehydrogenase in import into mitochondria. J Biol Chem 1996;271:21041-21048.
36. Heard TS, Weiner H. A regional net charge and structural compensation model to explain how negatively charged amino acids can be accepted within a mitochondrial leader sequence. J Biol Chem 1998;273:29389-29393.
37. Zullo SJ, Butler L, Zahorchak RJ, et al. Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase γ (POLG) to human chromosome band 15q24 → q26, and of mouse mitochondrial polymerase γ (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs). Cytogenet Cell Genet 1997;78:281-284.
38. Sambrook J, Fritsch EF, Maniatis T. Molecular Cloning. A Laboratory Manual, 2nd ed. New York: Cold Spring Harbor, 1989.
39. Slott EF, Shade RO, Lansman RA. Sequence analysis of mitochondrial DNA in a mouse cell line resistant to chloramphenicol and oligomycin. Mol Cell Biol 1983;3:1694-1702.
40. Shoffner JM, Fernhoff PM, Krawiecki NS, et al. Sub-acute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation. Neurology 1992;42:2168-2174.
41. Ojaimi J, Pan J, Santra S, et al. An alga1 nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit. Mol Biol Cell 2002;13:3836-3844.
42. Trounce I, Neill S, Wallace, DC. Cytoplasmic transfer of the mtDNA nt 8993 T → G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc Natl Acad Sci USA 1994;91:8334-8338.
43. Claros M, Perea J, Shu Y, et al. Limitations to in vivo import of hydrophobic proteins into yeast mitochondria. The case of a cytoplasmically synthesized apocytochrome b. Eur J Biochem. 1995;228:762-771.
44. Corral-Debrinski M, Belgareh N, Blugeon C, et al. Overexpression of yeast karyopherin Pse1p/Kap121p stimulates the mitochondrial import of hydrophobic proteins in vivo. Mol Microbiol 1999;31:1499-1511.
45. Lee CM, Lopez ME, Weindruch R, et al. Association of age-related mitochondrial abnormalities with skeletal muscle fiber atrophy. Free Radic Biol Med 1998;25:964-972.
46. Naviaux, RK. The spectrum of mitochondrial disease. In: Mitochondrial and Metabolic Disorders: A Primary Physician's Guide. Oradell, NJ: Psy-Ed Corp., 1997:3-10.