Nuclear expression of a mitochondrial DNA gene: Mitochondrial targeting of allotopically expressed mutant ATP6 in transgenic mice

Journal of Biomedicine and Biotechnology

Volumn 2012, Issue , 2012, Pages

  Dunn, David A ^a   Pinkert, Carl A ^a  

^a AUBURN UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; LACTIC ACID; LEUCINE; MANGANESE SUPEROXIDE DISMUTASE; MITOCHONDRIAL DNA; MT ATP6 PROTEIN, MOUSE; MT-ATP6 PROTEIN, MOUSE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ATP6 GENE; BIOCHEMISTRY; BIOENERGY; CONTROLLED STUDY; FEMALE; GAIT; GENE; GENE EXPRESSION; GENE MUTATION; GENE SYNTHESIS; LACTATE BLOOD LEVEL; LOCOMOTION; MALE; MOTOR DYSFUNCTION; MOTOR PERFORMANCE; MOUSE; MUSCLE STRENGTH; NARP SYNDROME; NEUROMUSCULAR DISEASE; NONHUMAN; OXYGEN CONSUMPTION; TRANSGENIC ANIMAL; ANIMAL; BIOLOGICAL MODEL; BIOSYNTHESIS; C57BL MOUSE; CELL NUCLEUS; GENETICS; METABOLISM; MITOCHONDRIAL GENE; MOLECULAR CLONING; MUTATION; TRANSGENIC MOUSE;

ANIMALIA; MUS; MUS MUSCULUS;

ANIMALS; CELL NUCLEUS; CLONING, MOLECULAR; DNA, MITOCHONDRIAL; FEMALE; GENE EXPRESSION; GENES, MITOCHONDRIAL; MALE; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MODELS, GENETIC; MOTOR SKILLS; MUTATION;

EID: 84863696509     PISSN: 11107243     EISSN: 11107251     Source Type: Journal    
DOI: 10.1155/2012/541245     Document Type: Article

References (26)

1. Timmis J. N., Ayliffe M. A., Huang C. Y., Martin W., Endosymbiotic gene transfer: organelle genomes forge eukaryotic chromosomes Nature Reviews Genetics 2004 5 2 123 135 (Pubitemid 38160279)
2. DiMauro S., Mancuso M., Mitochondrial diseases: therapeutic approaches Bioscience Reports 2007 27 13 125 137 (Pubitemid 46940941)
3. Kyriakouli D. S., Boesch P., Taylor R. W., Lightowlers R. N., Progress and prospects: gene therapy for mitochondrial DNA disease Gene Therapy 2008 15 14 1017 1023 (Pubitemid 351927692)
4. Cwerman-Thibault H., Sahel J. A., Corral-Debrinski M., Mitochondrial medicine: to a new era of gene therapy for mitochondrial DNA mutations Journal of Inherited Metabolic Disease 2011 34 2 327 344
5. Dunn D. A., Cannon M. V., Irwin M. H., Pinkert C. A., Animal models of human mitochondrial DNA mutations Biochimica et Biophysica Acta 2011 1820 5 601 607
6. Gearing D. P., Nagley P., Yeast mitochondrial ATPase subunit 8, normally a mitochondrial gene product, expressed in vitro and imported back into the organelle The EMBO Journal 1986 5 13 3651 3655
7. Manfredi G., Fu J., Ojaimi J., Sadlock J. E., Kwong J. Q., Guy J., Schon E. A., Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus Nature Genetics 2002 30 4 394 399
8. Shidara Y., Yamagata K., Kanamori T., Nakano K., Kwong J. Q., Manfredi G., Oda H., Ohta S., Positive contribution of pathogenic mutations in the mitochondrial genome to the promotion of cancer by prevention from apoptosis Cancer Research 2005 65 5 1655 1663 (Pubitemid 40478589)
9. Zullo S. J., Parks W. T., Chloupkova M., Wei B., Weiner H., Fenton W. A., Eisenstadt J. M., Merril C. R., 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 2005 8 1 18 28
10. Qi X., Sun L., Lewin A. S., Hauswirth W. W., Guy J., The mutant human ND4 subunit of complex I induces optic neuropathy in the mouse Investigative Ophthalmology Visual Science 2007 48 1 1 10 (Pubitemid 47251378)
11. Guy J., Qi X., Koilkonda R. D., Arguello T., Chou T. H., Ruggeri M., Porciatti V., Lewin A. S., Hauswirth W. W., Efficiency and safety of AAV-mediated gene delivery of the human ND4 complex I subunit in the mouse visual system Investigative Ophthalmology Visual Science 2009 50 9 4205 4214
12. Holt I. J., Harding A. E., Petty R. K., Morgan-Hughes J. A., A new mitochondrial disease associated with mitochondrial DNA heteroplasmy American Journal of Human Genetics 1990 46 3 428 433
13. Makela-Bengs P., Suomalainen A., Majander A., Rapola J., Kalimo H., Nuutila A., Pihko H., Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome Pediatric Research 1995 37 5 634 639
14. Santorelli F. M., Shanske S., Macaya A., DeVivo D. C., DiMauro S., The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome Annals of Neurology 1993 34 6 827 834 (Pubitemid 23357897)
15. Young L., Dong Q., Two-step total gene synthesis method Nucleic Acids Research 2004 32 7, article e59
16. Rizzuto R., Simpson A. W., Brini M., Pozzan T., Rapid changes of mitochondrial Ca 2+ revealed by specifically targeted recombinant aequorin Nature 1992 358 6384 325 327
17. Kim D. W., Uetsuki T., Kaziro Y., Yamaguchi N., Sugano S., Use of the human elongation factor 1 promoter as a versatile and efficient expression system Gene 1990 91 2 217 223 (Pubitemid 20269505)
18. Evan G. I., Lewis G. K., Ramsay G., Bishop J. M., Isolation of monoclonal antibodies specific for human c-myc proto-oncogene product Molecular and Cellular Biology 1985 5 12 3610 3616 (Pubitemid 16233068)
19. Pinkert C. A., Transgenic Animal Technology: A Laboratory Handbook 2002 San Diego, Calif, USA Academic Press
20. Karl T., Pabst R., von Hrsten S., Behavioral phenotyping of mice in pharmacological and toxicological research Experimental and Toxicologic Pathology 2003 55 1 69 83 (Pubitemid 36975689)
21. Carter R. J., Lione L. A., Humby T., Mangiarini L., Mahal A., Bates G. P., Dunnett S. B., Morton A. J., Characterization of progressive motor deficits in mice transgenic for the human Huntington's disease mutation Journal of Neuroscience 1999 19 8 3248 3257 (Pubitemid 29174016)
22. Trounce I. A., Kim Y. L., Jun A. S., Wallace D. C., Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines Methods in Enzymology 1996 264 484 509
23. Will Y., Hynes J., Ogurtsov V. I., Papkovsky D. B., Analysis of mitochondrial function using phosphorescent oxygen-sensitive probes Nature Protocols 2007 1 6 2563 2572
24. Vives-Bauza C., Yang L., Manfredi G., Assay of mitochondrial ATP synthesis in animal cells and tissues Methods in Cell Biology 2007 80 155 171
25. D'Aurelio M., Vives-Bauza C., Davidson M. M., Manfredi G., Mitochondrial DNA background modifies the bioenergetics of NARP/MILS ATP6 mutant cells Human Molecular Genetics 2010 19 2 374 386
26. Wallace D. C., Bioenergetics and the epigenome: interface between the environment and genes in common diseases Developmental Disabilities Research Reviews 2010 16 2 114 119