Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV

Proceedings of the National Academy of Sciences of the United States of America

Volumn 106, Issue 9, 2009, Pages 3437-3442

  Datta, Rupak ^a   Waheed, Abdul ^a   Bonapace, Giuseppe ^a   Shah, Gul N ^a   Sly, William S ^a  

^a SAINT LOUIS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Autosomal dominant; Chemical chaperone; ER stress; Missense mutation; Na+ bicarbonate co transporter 1

Indexed keywords

CARBONATE DEHYDRATASE IV; DORZOLAMIDE; GLUCOSE REGULATED PROTEIN 78; GROWTH ARREST AND DNA DAMAGE INDUCIBLE PROTEIN 153;

ANIMAL CELL; APOPTOSIS; ARTICLE; CELL DEATH; CELL SURFACE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM STRESS; ENZYME ACTIVITY; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA;

ANIMALS; APOPTOSIS; CARBONIC ANHYDRASE IV; CELL LINE; CELL MEMBRANE; CERCOPITHECUS AETHIOPS; ENDOPLASMIC RETICULUM; ENZYME INHIBITORS; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; MUTATION; PROTEIN TRANSPORT; RETINITIS PIGMENTOSA;

EID: 62549099626     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0813178106     Document Type: Article

References (34)

1. Hartong DT, Berson EL, Dryja TP (2006) Retinitis pigmentosa. Lancet 368:1795-1809.
2. Rebello G, et al. (2004) Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. Proc Natl Acad Sci USA 101:6617-6622.
3. Yang Z, et al. (2005) Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. Hum Mol Genet 14:255-265.
4. Alvarez BV, et al. (2007) Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. Invest Ophthalmol Vis Sci 48:3459-3468.
5. Hageman GS, Zhu XL, Waheed A, Sly WS (1991) Localization of carbonic anhydrase IV in a specific capillary bed of the human eye. Proc Natl Acad Sci USA 88:2716-2720.
6. Okuyama T, Sato S, Zhu XL, Waheed A, Sly WS (1992) Human carbonic anhydrase IV: cDNA cloning, sequence comparison, and expression in COS cell membranes. Proc Natl Acad Sci USA 89:1315-1319.
7. Okuyama T, Waheed A, Kusumoto W, Zhu XL, Sly WS (1995) Carbonic anhydrase IV: Role of removal of C-terminal domain in glycosylphosphatidylinositol anchoring and realization of enzyme activity. Arch Biochem Biophys 320:315-322.
8. Bonapace G, Waheed A, Shah GN, Sly WS (2004) Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17. Proc Natl Acad Sci USA 101:12300-12305.
9. Ogilvie JM, et al. (2007) Carbonic anhydrase XIV deficiency produces a functional defect in the retinal light response. Proc Natl Acad Sci USA 104:8514-8519.
10. Stams T, et al. (1996) Crystal structure of the secretory form of membrane-associated human carbonic anhydrase IV at 2.8-A resolution. Proc Natl Acad Sci USA 93:13589-13594.
11. Waheed A, Zhu XL, Sly WS (1992) Membrane-associated carbonic anhydrase from rat lung: Purification, characterization, tissue distribution, and comparison with carbonic anhydrase IVs of other mammals. J Biol Chem 267:3308-3311.
12. Wu J, Kaufman RJ (2006) From acute ER stress to physiological roles of the Unfolded Protein Response. Cell Death Differ 13:374-384.
13. Krebs JF, Fierke CA (1993) Determinants of catalytic activity and stability of carbonic anhydrase II as revealed by random mutagenesis. J Biol Chem 268:948-954.
14. Sitia R, Braakman I (2003) Quality control in the endoplasmic reticulum protein factory. Nature 426:891-894.
15. Izumi T, et al. (2003) Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse. Diabetes 52:409-416.
16. Cooper AA, et al. (2006) Alpha-synuclein blocks ER-Golgi traffic and Rab1 rescues neuron loss in Parkinson's models. Science 313:324-328.
17. Ryu EJ, et al. (2002) Endoplasmic reticulum stress and the unfolded protein response in cellular models of Parkinson's disease. J Neurosci 22:10690-10698.
18. Ozcan U, et al. (2004) Endoplasmic reticulum stress links obesity, insulin action, and type 2 diabetes. Science 306:457-461.
19. Mattson MP, Gary DS, Chan SL, Duan W (2001) Perturbed endoplasmic reticulum function, synaptic apoptosis and the pathogenesis of Alzheimer's disease. Biochem Soc Symp151-162.
20. Datta R, Waheed A, Shah GN, Sly WS (2007) Signal sequence mutation in autosomal dominant form of hypoparathyroidism induces apoptosis that is corrected by a chemical chaperone. Proc Natl Acad Sci USA 104:19989-19994.
21. Galy A, Roux MJ, Sahel JA, Leveillard T, Giangrande A (2005) Rhodopsin maturation defects induce photoreceptor death by apoptosis: a fly model for RhodopsinPro23His human retinitis pigmentosa. Hum Mol Genet 14:2547-2557.
22. Colley NJ, Baker EK, Stamnes MA, Zuker CS (1991) The cyclophilin homolog ninaA is required in the secretory pathway. Cell 67:255-263.
23. Zhang K, Kaufman RJ (2008) From endoplasmic-reticulum stress to the inflammatory response. Nature 454:455-462.
24. Ulloa-Aguirre A, Janovick JA, Brothers SP, Conn PM (2004) Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease. Traffic 5:821-837.
25. Mincione F, Scozzafava A, Supuran CT (2008) The development of topically acting carbonic anhydrase inhibitors as antiglaucoma agents. Curr Pharm Des 14:649-654.
26. Grover S, Apushkin MA, Fishman GA (2006) Topical dorzolamide for the treatment of cystoid macular edema in patients with retinitis pigmentosa. Am J Ophthalmol 141:850-858.
27. Kohn L, et al. (2008) Carrier of R14W in carbonic anhydrase IV presents Bothnia dystrophy phenotype caused by two allelic mutations in RLBP1. Invest Ophthalmol Vis Sci 49:3172-3177.
28. Fain GL (2006) Why photoreceptors die (and why they don't). Bioessays 28:344-354.
29. Wu T, Handa JT, Gottsch JD (2005) Light-induced oxidative stress in choroidal endothelial cells in mice. Invest Ophthalmol Vis Sci 46:1117-1123.
30. Parkkila S, et al. (1997) Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract. Proc Natl Acad Sci USA 94:2534-2539.
31. Horita S, et al. (2005) Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities. J Am Soc Nephrol 16:2270-2278.
32. Maren TH (1960) A simplified micromethod for the determination of carbonic anhydrase and its inhibitors. J Pharmacol Exp Ther 130:26-29.
33. Peterson GL (1979) Review of the Folin phenol protein quantitation method of Lowry, Rosebrough, Farr and Randall. Anal Biochem 100:201-220.
34. Laemmli UK (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227:680-685.