Pro370Leu mutant myocilin disturbs the endoplasm reticulum stress response and mitochondrial membrane potential in human trabecular meshwork cells

Molecular Vision

Volumn 13, Issue , 2007, Pages 618-625

  Wang, Lina ^a   Zhuo, Yehong ^a   Liu, Bingqian ^a   Huang, Shengsong ^a   Hou, Fei ^a   Ge, Jian ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLUCOSE REGULATED PROTEIN 78; INITIATION FACTOR 2; MYOCILIN; PLASMID DNA;

ARTICLE; CELL DAMAGE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DOWN REGULATION; ENDOPLASMIC RETICULUM STRESS; FLOW CYTOMETRY; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; MEMBRANE POTENTIAL; MITOCHONDRIAL MEMBRANE; MOLECULAR DYNAMICS; MUTANT; OPEN ANGLE GLAUCOMA; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; QUANTITATIVE ANALYSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TRABECULAR MESHWORK; WESTERN BLOTTING; WILD TYPE;

ADULT; CELLS, CULTURED; CYTOSKELETAL PROTEINS; ENDOPLASMIC RETICULUM; EUKARYOTIC INITIATION FACTOR-2; EYE PROTEINS; GLYCOPROTEINS; HEAT-SHOCK PROTEINS; HUMANS; LEUCINE; MEMBRANE POTENTIAL, MITOCHONDRIAL; MOLECULAR CHAPERONES; MUTATION; PHOSPHORYLATION; PROLINE; RNA, MESSENGER; STRESS; TRABECULAR MESHWORK; TRANSFECTION;

EID: 34247475386     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (47)

1. Alward WL. Biomedicine. A new angle on ocular development. Science 2003; 299:1527-8.
2. Stone EM, Fingert JH, Alward WL, Nguyen TD, Polansky JR, Sunden SL, Nishimura D, Clark AF, Nystuen A, Nichols BE, Mackey DA, Ritch R, Kalenak JW, Craven ER, Sheffield VC. Identification of a gene that causes primary open angle glaucoma. Science 1997; 275:668-70.
3. Gong G, Kosoko-Lasaki O, Haynatzki GR, Wilson MR. Genetic dissection of myocilin glaucoma. Hum Mol Genet 2004; 13:R91-102. Erratum in: Hum Mol Genet. 2004; 13:991.
4. Adam MF, Belmouden A, Binisti P, Brezin AP, Valtot F, Bechetoille A, Dascotte JC, Copin B, Gomez L, Chaventre A, Bach JF, Garchon HJ. Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma. Hum Mol Genet 1997; 6:2091-7.
5. Rozsa FW, Shimizu S, Lichter PR, Johnson AT, Othman MI, Scott K, Downs CA, Nguyen TD, Polansky J, Richards JE. GLC1A mutations point to regions of potential functional importance on the TIGR/MYOC protein. Mol Vis 1998; 4:20.
6. Ge J, Zhuo Y, Guo Y, Ming W, Yin W. Gene mutation in patients with primary open-angle glaucoma in a pedigree in China. Chin Med J (Engl) 2000; 113:195-7.
7. Wei YT, Duan S, Ge J, Zhuo YH, Ling YL, Lin MK, Gao QY. [A preliminary study on gene mutation and its function in a large family (GZ.1 pedigree) with open-angle glaucoma]. Zhonghua Yan Ke Za Zhi 2005; 41:1068-75.
8. Tamm ER. Myocilin and glaucoma: facts and ideas. Prog Retin Eye Res 2002; 21:395-428.
9. Fautsch MP, Bahler CK, Jewison DJ, Johnson DH. Recombinant TIGR/MYOC increases outflow resistance in the human anterior segment. Invest Ophthalmol Vis Sci 2000; 41:4163-8.
10. Wentz-Hunter K, Shen X, Okazaki K, Tanihara H, Yue BY. Overexpression of myocilin in cultured human trabecular meshwork cells. Exp Cell Res 2004; 297:39-48.
11. Wentz-Hunter K, Kubota R, Shen X, Yue BY. Extracellular myocilin affects activity of human trabecular meshwork cells. J Cell Physiol 2004; 200:45-52.
12. Ueda J, Wentz-Hunter KK, Cheng EL, Fukuchi T, Abe H, Yue BY. Ultrastructural localization of myocilin in human trabecular meshwork cells and tissues. J Histochem Cytochem 2000; 48:1321-30.
13. Wentz-Hunter K, Ueda J, Shimizu N, Yue BY. Myocilin is associated with mitochondria in human trabecular meshwork cells. J Cell Physiol 2002; 190:46-53.
14. Sohn S, Hur W, Joe MK, Kim JH, Lee ZW, Ha KS, Kee C. Expression of wild-type and truncated myocilins in trabecular meshwork cells: their subcellular localizations and cytotoxicities. Invest Ophthalmol Vis Sci 2002; 43:3680-5.
15. Joe MK, Sohn S, Hur W, Moon Y, Choi YR, Kee C. Accumulation of mutant myocilins in ER leads to ER stress and potential cytotoxicity in human trabecular meshwork cells. Biochem Biophys Res Commun 2003; 312:592-600.
16. Liu Y, Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet 2004; 13:1193-204.
17. Gould DB, Miceli-Libby L, Savinova OV, Torrado M, Tomarev SI, Smith RS, John SW. Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. Mol Cell Biol 2004; 24:9019-25.
18. Kim BS, Savinova OV, Reedy MV, Martin J, Lun Y, Gan L, Smith RS, Tomarev SI, John SW, Johnson RL. Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function. Mol Cell Biol 2001; 21:7707-13.
19. Wiggs JL, Vollrath D. Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC. Arch Ophthalmol 2001; 119:1674-8.
20. Zhou Z, Vollrath D. A cellular assay distinguishes normal and mutant TIGR/myocilin protein. Hum Mol Genet 1999; 8:2221-8.
21. Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH, Hageman G, Mullins R, Davidson BL, Kwon YH, Alward WL, Stone EM, Clark AF, Sheffield VC. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet 2001; 10:117-25.
22. Senatorov V, Malyukova I, Fariss R, Wawrousek EF, Swaminathan S, Sharan SK, Tomarev S. Expression of mutated mouse myocilin induces open-angle glaucoma in transgenic mice. J Neurosci 2006; 26:11903-14.
23. Ellgaard L, Molinari M, Helenius A. Setting the standards: quality control in the secretory pathway. Science 1999; 286:1882-8.
24. Rutkowski DT, Kaufman RJ. A trip to the ER: coping with stress. Trends Cell Biol 2004; 14:20-8.
25. Ma Y, Hendershot LM. The mammalian endoplasmic reticulum as a sensor for cellular stress. Cell Stress Chaperones 2002; 7:222-9.
26. Dobson CM. Protein misfolding, evolution and disease. Trends Biochem Sci 1999; 24:329-32.
27. Schroder M, Kaufman RJ. ER stress and the unfolded protein response. Mutat Res 2005; 569:29-63.
28. Beuret N, Rutishauser J, Bider MD, Spiess M. Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus. J Biol Chem 1999; 274:18965-72.
29. Ron D. Proteotoxicity in the endoplasmic reticulum: lessons from the Akita diabetic mouse. J Clin Invest 2002; 109:443-5.
30. Katayama T, Imaizumi K, Sato N, Miyoshi K, Kudo T, Hitomi J, Morihara T, Yoneda T, Gomi F, Mori Y, Nakano Y, Takeda J, Tsuda T, Itoyama Y, Murayama O, Takashima A, St George-Hyslop P, Takeda M, Tohyama M. Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response. Nat Cell Biol 1999; 1:479-85.
31. Sato N, Imaizumi K, Manabe T, Taniguchi M, Hitomi J, Katayama T, Yoneda T, Morihara T, Yasuda Y, Takagi T, Kudo T, Tsuda T, Itoyama Y, Makifuchi T, Fraser PE, St George-Hyslop P, Tohyama M. Increased production of beta-amyloid and vulnerability to endoplasmic reticulum stress by an aberrant spliced form of presenilin 2. J Biol Chem 2001; 276:2108-14.
32. Walter L, Hajnoczky G. Mitochondria and endoplasmic reticulum: the lethal interorganelle cross-talk. J Bioenerg Biomembr 2005; 37:191-206.
33. Polansky JR, Fauss DJ, Zimmerman CC. Regulation of TIGR/MYOC gene expression in human trabecular meshwork cells. Eye 2000; 14:503-14.
34. Wang X, Johnson DH. mRNA in situ hybridization of TIGR/MYOC in human trabecular meshwork. Invest Ophthalmol Vis Sci 2000; 41:1724-9.
35. Oliver BL, Cronin CG, Zhang-Benoit Y, Goldring MB, Tanzer ML. Divergent stress responses to IL-1beta, nitric oxide, and tunicamycin by chondrocytes. J Cell Physiol 2005; 204:45-50.
36. Okopien B, Huzarska M, Kulach A, Stachura-Kulach A, Madej A, Belowski D, Zielinski M, Herman ZS. Hypolipidemic drugs affect monocyte IL-1beta gene expression and release in patients with IIa and IIb dyslipidemia. J Cardiovasc Pharmacol 2005; 45:160-4.
37. Salvioli S, Ardizzoni A, Franceschi C, Cossarizza A. JC-1, but not DiOC6(3) or rhodamine 123, is a reliable fluorescent probe to assess delta psi changes in intact cells: implications for studies on mitochondrial functionality during apoptosis. FEBS Lett 1997; 411:77-82.
38. Harding HP, Zhang Y, Ron D. Protein translation and folding are coupled by an endoplasmic-reticulum-resident kinase. Nature 1999; 397:271-4. Erratum in: Nature 1999; 398:90.
39. Feeney CJ, Pennefather PS, Gyulkhandanyan AV. A cuvette-based fluorometric analysis of mitochondrial membrane potential measured in cultured astrocyte monolayers. J Neurosci Methods 2003; 125:13-25.
40. Nicholls DG, Ward MW. Mitochondrial membrane potential and neuronal glutamate excitotoxicity: mortality and millivolts. Trends Neurosci 2000; 23:166-74.
41. Kaufman RJ. Stress signaling from the lumen of the endoplasmic reticulum: coordination of gene transcriptional and translational controls. Genes Dev 1999; 13:1211-33.
42. Lee AS. The glucose-regulated proteins: stress induction and clinical applications. Trends Biochem Sci 2001; 26:504-10.
43. Kaufman RJ. Regulation of mRNA translation by protein folding in the endoplasmic reticulum. Trends Biochem Sci 2004; 29:152-8.
44. Holcik M, Sonenberg N. Translational control in stress and apoptosis. Nat Rev Mol Cell Biol 2005; 6:318-27.
45. Scheuner D, Vander Mierde D, Song B, Flamez D, Creemers JW, Tsukamoto K, Ribick M, Schuit FC, Kaufman RJ. Control of mRNA translation preserves endoplasmic reticulum function in beta cells and maintains glucose homeostasis. Nat Med 2005; 11:757-64.
46. Abu-Amero KK, Morales J, Bosley TM. Mitochondrial abnormalities in patients with primary open-angle glaucoma. Invest Ophthalmol Vis Sci 2006; 47:2533-41.
47. Iijima T, Mishima T, Tohyama M, Akagawa K, Iwao Y. Mitochondrial membrane potential and intracellular ATP content after transient experimental ischemia in the cultured hippocampal neuron. Neurochem Int 2003; 43:263-9.