Ketogenic treatment reduces deleted mitochondrial DNAs in cultured human cells

Annals of Neurology

Volumn 56, Issue 5, 2004, Pages 662-669

  Santra, Sumana ^a   Gilkerson, Robert W ^a   Davidson, Mercy ^a   Schon, Eric A ^a,b  

^a New York Presbyterian Columbia University Medical Center   (United States)

^b Columbia University ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOOXYGENASE 2 INHIBITOR; KETONE BODY; MITOCHONDRIAL DNA;

ARTICLE; CELL CULTURE; CELL GROWTH; CELL PROLIFERATION; CELL SELECTION; ENERGY METABOLISM; GENE DELETION; HUMAN; HUMAN CELL; KEARNS SAYRE SYNDROME; KETOGENIC DIET; MITOCHONDRIAL ENCEPHALOMYOPATHY; MITOCHONDRIAL RESPIRATION; MOLECULAR CLONING; PRIORITY JOURNAL; PROTEIN SYNTHESIS; SYSTEMIC DISEASE;

3-HYDROXYBUTYRIC ACID; BLOTTING, SOUTHERN; CELL PROLIFERATION; CELLS, CULTURED; CYCLOOXYGENASE 2; DNA, MITOCHONDRIAL; GENE DELETION; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; ISOENZYMES; KEARNS-SAYER SYNDROME; MEMBRANE PROTEINS; MODELS, BIOLOGICAL; MUSCLES; PROSTAGLANDIN-ENDOPEROXIDE SYNTHASES; TIME FACTORS;

EID: 9144268527     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20240     Document Type: Article

References (37)

1. DiMauro S, Schon EA. Mitochondrial respiratory-chain diseases. N Engl J Med 2003;348:2656-2668.
2. Anderson S, Bankier AT, Barrell BG, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290:457-465.
3. Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of mitochondrial DNA in patients with mitochondrial myopathies. Nature 1988;331:717-719.
4. Zeviani M, Moraes CT, DiMauro S, et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 1988;38:1339-1346.
5. Moraes CT, DiMauro S, Zeviani M, et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 1989;320:1293-1299.
6. Rötig A, Colonna M, Bonnefont JP, et al. Mitochondrial DNA deletion in Pearson's Marrow/Pancreas syndrome. Lancet 1989;902-903.
7. Rowland LP, Hays AP, DiMauro S, et al. Diverse clinical disorders associated with morphological abnormalities of mitochondria. In: Cerri C, Scarlato G, eds. Mitochondrial pathology in muscle diseases. Padua: Piccin Editore, 1983:141-158.
8. Nakase H, Moraes CT, Rizzuto R, et al. Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. Am J Hum Genet 1990;46:418-427.
9. Tang Y, Schon EA, Wilichowski E, et al. Rearrangements of human mitochondrial DNA (mtDNA): new insights into the regulation of mtDNA copy number and gene expression. Mol Biol Cell 2000;11:1471-1485.
10. Hayashi JI, Ohta S, Kikuchi A, et al. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci U S A 1991;88:10614-10618.
11. Porteous WK, James AM, Sheard PW, et al. Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion. Eur J Biochem 1998;257:192-201.
12. van den Ouweland JM, de Klerk JB, van de Corput MP, et al. Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow-pancreas syndrome. Eur J Hum Genet 2000;8:195-203.
13. Manfredi G, Gupta N, Vazquez-Memije ME, et al. Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene. J Biol Chem 1999;274:9386-9391.
14. Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-433.
15. Robinson BH, Petrova-Benedict R, Buncic JR, Wallace DC. Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. Biochem Med Metab Biol 1992;48:122-126.
16. Robinson BH. Use of fibroblast and lymphoblast cultures for detection of respiratory chain defects. Methods Enzymol 1996;264:454-464.
17. Schon EA, Rizzuto R, Moraes CT, et al. A direct repeat is a hotspot for large-scale deletions of human mitochondrial DNA. Science 1989;244:346-349.
18. Sancho S, Moraes CT, Tanji K, Miranda AF. Structural and functional mitochondrial abnormalities associated with high levels of partially deleted mitochondrial DNAs in somatic cell hybrids. Somat Cell Mol Genet 1992;18:431-442.
19. Davidson M, Zhang L, Koga Y, et al. Genetic and functional complementation of deleted mitochondrial DNA. Neurology 1995;45:A831.
20. Mita S, Rizzuto R, Moraes CT, et al. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res 1990;18:561-567.
21. Margineantu DH, Cox WG, Sundell L, et al. Cell cycle dependent morphology changes and associated mitochondrial DNA. Mitochondrion 2002;1:425-435.
22. Veech RL, Chance B, Kashiwaya Y, et al. Ketone bodies, potential therapeutic uses. IUBMB Life 2001;51:241-247.
23. Bonilla E, Sciacco M, Tanji K, et al. New morphological approaches to the study of mitochondrial encephalomyopathies. Brain Pathol 1992;2:113-119.
24. Rossignol R, Gilkerson R, Aggeler R, et al. Energy substrate modulates mitochondrial structure and oxidative capacity in cancer cells. Cancer Res 2004;64:985-993.
25. Satoh M, Kuroiwa T. Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell. Exp Cell Res 1991;196:137-140.
26. Schagger H, Pfeiffer K. Supercomplexes in the respiratory chains of yeast and mammalian mitochondria. EMBO J 2000;19:1777-1783.
27. Bogenhagen DF, Wang Y, Shen EL, Kobayashi R. Protein components of mitochondrial DNA nucleoids in higher eukaryotes. Mol Cell Proteomics 2003;2:1205-1216.
28. VanItallie TB, Nufert TH. Ketones: metabolism's ugly duckling. Nutr Rev 2003;61:327-34l.
29. Reitzer LJ, Wice BM, Kennell D. Evidence that glutamine, not sugar, is the major energy source for cultured HeLa cells. J Biol Chem 1979;254:2669-2676.
30. Lanks KW. Metabolite regulation of heat shock protein levels. Proc Natl Acad Sci U S A 1983;80:5325-5929.
31. Bazil CW, Pedley TA. Advances in the medical treatment of epilepsy. Annu Rev Med 1998;49:135-162.
32. Nordli DR Jr, Kuroda MM, Carroll J, et al. Experience with the ketogenic diet in infants. Pediatrics 2001;108:129-133.
33. Greene AE, Todorova MT, Seyfried TN. Perspectives on the metabolic management of epilepsy through dietary reduction of glucose and elevation of ketone bodies. J Neurochem 2003;86:529-537.
34. Sullivan PG, Rippy NA, Dorenbos K, et al. The ketogenic diet increases mitochondrial uncoupling protein levels and activity. Ann Neurol 2004;55:576-580.
35. Tang Y, Glauser TA, Gilbert DL, et al. Valproic acid blood genomic expression patterns in children with epilepsy - a pilot study. Acta Neurol Scand 2004;109:159-168.
36. 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;25:394-399.
37. Ojaimi J, Pan J, Santra S, et al. An algal nucleus-encoded subunit of mitochondrial ATP synthase rescues a defect in the analogous human mitochondrial-encoded subunit. Mol Biol Cell 2002;13:3836-3844.