Early mitochondrial dysfunction leads to altered redox chemistry underlying pathogenesis of TPI deficiency

Neurobiology of Disease

Volumn 54, Issue , 2013, Pages 289-296

  Hrizo, Stacy L ^a,b   Fisher, Isaac J ^b   Long, Daniel R ^b   Hutton, Joshua A ^b   Liu, Zhaohui ^a   Palladino, Michael J ^a  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b SLIPPERY ROCK UNIVERSITY   (United States)

Author keywords

Drosophila; Glycolytic enzymopathy; Oxidative stress; Redox; TPI deficiency; Triose phosphate isomerase

Indexed keywords

GLUTATHIONE; NICOTINAMIDE ADENINE DINUCLEOTIDE; NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE; TRIOSEPHOSPHATE ISOMERASE;

AGE; ANIMAL BEHAVIOR; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DROSOPHILA MELANOGASTER; ENZYME ACTIVITY; ENZYME DEFICIENCY; LONGEVITY; MUTANT; NONHUMAN; OXIDATION REDUCTION REACTION; OXIDATIVE STRESS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

ANEMIA, HEMOLYTIC, CONGENITAL NONSPHEROCYTIC; ANIMALS; BLOTTING, WESTERN; DROSOPHILA MELANOGASTER; MITOCHONDRIA; OXIDATION-REDUCTION; OXIDATIVE STRESS; POINT MUTATION; TRIOSE-PHOSPHATE ISOMERASE;

EID: 84876300285     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2012.12.020     Document Type: Article

References (46)

1. Ahmed N., et al. Increased formation of methylglyoxal and protein glycation, oxidation and nitrosation in triosephosphate isomerase deficiency. Biochim. Biophys. Acta 2003, 1639:121-132.
2. Alberio T., et al. Cellular models to investigate biochemical pathways in Parkinson's disease. FEBS J. 2012, 279:1146-1155.
3. Arya R., et al. Evidence for founder effect of the Glu104Asp substitution and identification of new mutations in triosephosphate isomerase deficiency. Hum. Mutat. 1997, 10:290-294.
4. + metabolism in health and disease. Trends Biochem. Sci. 2007, 32:12-19.
5. Butterfield D.A., et al. Oxidatively modified glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and Alzheimer's disease: many pathways to neurodegeneration. J. Alzheimers Dis. 2010, 20:369-393.
6. Celotto A.M., et al. Drosophila model of human inherited triosephosphate isomerase deficiency glycolytic enzymopathy. Genetics 2006, 174:1237-1246.
7. Celotto A.M., et al. A novel Drosophila SOD2 mutant demonstrates a role for mitochondrial ROS in neurodevelopment and disease. Brain Behav. 2012, 4:424-434.
8. Chang M.L., et al. Human triosephosphate isomerase deficiency resulting from mutation of Phe-240. Am. J. Hum. Genet. 1993, 52:1260-1269.
9. Collins M.A., Neafsey E.J. Neuroinflammatory pathways in binge alcohol-induced neuronal degeneration: oxidative stress cascade involving aquaporin, brain edema, and phospholipase A2 activation. Neurotox. Res. 2012, 21:70-78.
10. Daar I.O., et al. Human triose-phosphate isomerase deficiency: a single amino acid substitution results in a thermolabile enzyme. Proc. Natl. Acad. Sci. U. S. A. 1986, 83:7903-7907.
11. de la Torre J.C. Three postulates to help identify the cause of Alzheimer's disease. J. Alzheimers Dis. 2011, 24:657-668.
12. Eber S.W., et al. Triosephosphate isomerase deficiency: haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity. Eur. J. Pediatr. 1991, 150:761-766.
13. Fischer M.T., et al. NADPH oxidase expression in active multiple sclerosis lesions in relation to oxidative tissue damage and mitochondrial injury. Brain 2012, 135:886-899.
14. Fujikake N., et al. Heat shock transcription factor 1-activating compounds suppress polyglutamine-induced neurodegeneration through induction of multiple molecular chaperones. J. Biol. Chem. 2008, 283:26188-26197.
15. Gnerer J.P., et al. wasted away, a Drosophila mutation in triosephosphate isomerase, causes paralysis, neurodegeneration, and early death. Proc. Natl. Acad. Sci. U. S. A. 2006, 103:14987-14993.
16. Grover D., et al. Hydrogen peroxide stimulates activity and alters behavior in Drosophila melanogaster. PLoS One 2009, 4:e7580.
17. Gruning N.M., et al. Pyruvate kinase triggers a metabolic feedback loop that controls redox metabolism in respiring cells. Cell Metab. 2011, 14:415-427.
18. Guix F.X., et al. Amyloid-dependent triosephosphate isomerase nitrotyrosination induces glycation and tau fibrillation. Brain 2009, 132:1335-1345.
19. Hirano Y., et al. Reactive oxygen species are not involved in the onset of age-related memory impairment in Drosophila. Genes Brain Behav. 2012, 11:79-86.
20. Hrizo S.L., Palladino M.J. Hsp70- and Hsp90-mediated proteasomal degradation underlies TPI sugarkill pathogenesis in Drosophila. Neurobiol. Dis. 2010, 40:676-683.
21. Jeong D.W., et al. Modification of glycolysis affects cell sensitivity to apoptosis induced by oxidative stress and mediated by mitochondria. Biochem. Biophys. Res. Commun. 2004, 313:984-991.
22. Karg E., et al. Diminished blood levels of reduced glutathione and alpha-tocopherol in two triosephosphate isomerase-deficient brothers. Blood Cells Mol. Dis. 2000, 26:91-100.
23. Kruger A., et al. The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response. Antioxid. Redox Signal. 2011, 15:311-324.
24. Kulic L., et al. Combined expression of tau and the Harlequin mouse mutation leads to increased mitochondrial dysfunction, tau pathology and neurodegeneration. Neurobiol. Aging 2011, 32:1827-1838.
25. Lerner F., et al. Structural and functional characterization of human NAD kinase. Biochem. Biophys. Res. Commun. 2001, 288:69-74.
26. Liu Z., et al. Genetically encoded redox sensor identifies the role of ROS in degenerative and mitochondrial disease pathogenesis. Neurobiol. Dis. 2011, 45:362-368.
27. Miyazawa N., et al. Methylglyoxal augments intracellular oxidative stress in human aortic endothelial cells. Free Radic. Res. 2010, 44:101-107.
28. Olah J., et al. Triosephosphate isomerase deficiency: a neurodegenerative misfolding disease. Biochem. Soc. Trans. 2002, 30:30-38.
29. Orosz F., et al. Distinct behavior of mutant triosephosphate isomerase in hemolysate and in isolated form: molecular basis of enzyme deficiency. Blood 2001, 98:3106-3112.
30. Orosz F., et al. Triosephosphate isomerase deficiency: facts and doubts. IUBMB Life. 2006, 58:703-715.
31. 2 and menadione exposed Aspergillus nidulans cultures-linking genome-wide transcriptional changes to cellular physiology. BMC Genomics 2005, 6:182.
32. Pollak N., et al. The power to reduce: pyridine nucleotides-small molecules with a multitude of functions. Biochem. J. 2007, 402:205-218.
33. Pollak N., et al. NAD kinase levels control the NADPH concentration in human cells. J. Biol. Chem. 2007, 282:33562-33571.
34. Ralser M., et al. Triose phosphate isomerase deficiency is caused by altered dimerization-not catalytic inactivity-of the mutant enzymes. PLoS One 2006, 1:e30.
35. Ralser M., et al. Dynamic rerouting of the carbohydrate flux is key to counteracting oxidative stress. J. Biol. 2007, 6:10.
36. Schneider A.S., et al. Hereditary hemolytic anemia with triosephosphate isomerase deficiency. N. Engl. J. Med. 1965, 272:229-235.
37. Schulz T.J., et al. Glucose restriction extends Caenorhabditis elegans life span by inducing mitochondrial respiration and increasing oxidative stress. Cell Metab. 2007, 6:280-293.
38. Seigle J.L., et al. Degradation of functional triose phosphate isomerase protein underlies sugarkill pathology. Genetics 2008, 179:855-862.
39. Thorpe G.W., et al. Cells have distinct mechanisms to maintain protection against different reactive oxygen species: oxidative-stress-response genes. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:6564-6569.
40. Wang D., et al. Dispensable role of Drosophila ortholog of LRRK2 kinase activity in survival of dopaminergic neurons. Mol. Neurodegener. 2008, 3:3.
41. Wang H., et al. Methylglyoxal-induced mitochondrial dysfunction in vascular smooth muscle cells. Biochem. Pharmacol. 2009, 77:1709-1716.
42. Wang L., et al. Protein misfolding and oxidative stress promote glial-mediated neurodegeneration in an Alexander disease model. J. Neurosci. 2011, 31:2868-2877.
43. Weber A.L., et al. Genome-wide association analysis of oxidative stress resistance in Drosophila melanogaster. PLoS One 2012, 7:e34745.
44. 2 and diamide. J. Biol. Chem. 1997, 272:7908-7914.
45. +/NADPH in cellular functions and cell death: regulation and biological consequences. Antioxid. Redox Signal. 2008, 10:179-206.
46. Zhong M., et al. Direct sensing of heat and oxidation by Drosophila heat shock transcription factor. Mol. Cell 1998, 2:101-108.