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CHEMICAL CHAPERONE EFFECTS ON ARGININE-VASOPRESSIN RECEPTOR 2 MUTANTS

Year 2022, Volume: 50 Issue: 1, 37 - 43, 05.01.2022
https://doi.org/10.15671/hjbc.669854

Abstract

Improper folding of the mutant proteins may finally cause several conformational diseases such as Nephrogenic Diabetes Insipidus (NDI). In recent years, as a therapeutic strategy, chaperone treatment for such diseases is among current issues. In our study, we aimed to analyze the effect of several chemical chaperones on mutant V2 receptors which cause NDI. V2R mutant constructs were introduced into the pLV2R. Mutants were transiently expressed in COS-7 cells. After MTT analyses, cell surface ELISA experiment was performed for understanding the rescue potential of the chaperones of the mutated proteins. As a result, we analyzed that rescue potential of a chemical chaperone depends on both chemical compound and the mutation type. We may conclude that such chaperone treatment studies are valuable for development of the therapeutic strategies.

References

  • [1] J.H. Robben, N.V. Knoers, P.M. Deen, Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus, Am J Physiol Renal Physiol 291(2) (2006) F257-70.
  • [2] N. Gregersen, P. Bross, S. Vang, J.H. Christensen, Protein misfolding and human disease, Annu Rev Genomics Hum Genet 7 (2006) 103-24.
  • [3] V. Bernier, M. Lagace, D.G. Bichet, M. Bouvier, Pharmacological chaperones: potential treatment for conformational diseases, Trends Endocrinol Metab 15(5) (2004) 222-8.
  • [4] E. Saglar, F. Deniz, B. Erdem, T. Karaduman, A. Yonem, E. Cagiltay, H. Mergen, A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family, Endocrine 46(1) (2014) 148-53.
  • [5] D.G. Bichet, Chapter 2 V2R Mutations and Nephrogenic Diabetes Insipidus, 2009, pp. 15-29.
  • [6] C.H. Chen, Chen, W.Y., Liu, H.L., Liu, T.T., Tsou, A.P., Lin, C.Y., Chao, T., Qi, Y., Hsiao, K.J., Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients, J Hum Genet. 47(2) (2002) 66-73.
  • [7] D.S. Duzenli, E., Deniz, F., Azal O., Erdem, B., Mergen, H., Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus, Endocrine (2012).
  • [8] B. Erdem, A. Schulz, E. Saglar, F. Deniz, T. Schoneberg, H. Mergen, Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus, Endocr Connect 7(1) (2018) 56-64.
  • [9] C.P. Papp E, Chemical chaperones: mechanisms of action and potential use., Handb Exp Pharmacol. 172 (2006) 405-16.
  • [10] J.H. Robben, P.M. Deen, Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application, BioDrugs 21(3) (2007) 157-66.
  • [11] J.D. Albright, Reich, M.F., Delos Santos EG, Dusza JP, Sum FW, Venkatesan AM, Coupet J, Chan PS, Ru X, Mazandarani H, Bailey T., 5-Fluoro-2-methyl-N-[4-(5H-pyrrolo[2,1-c]-[1, 4]benzodiazepin-10(11H)-ylcarbonyl)-3-chlorophenyl]benzamide (VPA-985): an orally active arginine vasopressin antagonist with selectivity for V2 receptors., J Med Chem. 41(14) (1998) 2442-4.
  • [12] B. Mouillac, C. Mendre, Pharmacological Chaperones as Potential Therapeutic Strategies for Misfolded Mutant Vasopressin Receptors, Handb Exp Pharmacol 245 (2018) 63-83.
  • [13] S. Diamant, N. Eliahu, D. Rosenthal, P. Goloubinoff, Chemical chaperones regulate molecular chaperones in vitro and in cells under combined salt and heat stresses, J Biol Chem 276(43) (2001) 39586-91.
  • [14] D.S. Yang, C.M. Yip, T.H. Huang, A. Chakrabartty, P.E. Fraser, Manipulating the amyloid-beta aggregation pathway with chemical chaperones, J Biol Chem 274(46) (1999) 32970-4.
  • [15] J.H. Robben, M. Sze, N.A.M. Knoers, P.M.T. Deen, Rescue of vasopressin V2 receptor mutants by chemical chaperones: Specificity and mechanism, Molecular Biology of the Cell 17(1) (2006) 379-386.
  • [16] S. Sato, Ward, C. L., Krouse, M. E., Wine, J. J., and Kopito, R. R., Glycerol reverses the misfolding phenotype of the most common cystic fibrosismutation., J. Biol. Chem. 271 (1996) 635–638.
  • [17] Z. Bebok, C.J. Venglarik, Z. Panczel, T. Jilling, K.L. Kirk, E.J. Sorscher, Activation of DeltaF508 CFTR in an epithelial monolayer, Am J Physiol 275(2) (1998) C599-607.
  • [18] Y.X. Tao, P.M. Conn, Chaperoning G protein-coupled receptors: from cell biology to therapeutics, Endocr Rev 35(4) (2014) 602-47.
  • [19] H.I. Cheong, H.Y. Cho, H.W. Park, I.S. Ha, Y. Choi, Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones, Nephrology (Carlton) 12(2) (2007) 113-7.
  • [20] B.K. Tamarappoo, B. Yang, A.S. Verkman, Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus, J Biol Chem 274(49) (1999) 34825-31.
  • [21] T. Arakawa, D. Ejima, Y. Kita, K. Tsumoto, Small molecule pharmacological chaperones: From thermodynamic stabilization to pharmaceutical drugs, Biochim Biophys Acta 1764(11) (2006) 1677-87.
Year 2022, Volume: 50 Issue: 1, 37 - 43, 05.01.2022
https://doi.org/10.15671/hjbc.669854

Abstract

References

  • [1] J.H. Robben, N.V. Knoers, P.M. Deen, Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus, Am J Physiol Renal Physiol 291(2) (2006) F257-70.
  • [2] N. Gregersen, P. Bross, S. Vang, J.H. Christensen, Protein misfolding and human disease, Annu Rev Genomics Hum Genet 7 (2006) 103-24.
  • [3] V. Bernier, M. Lagace, D.G. Bichet, M. Bouvier, Pharmacological chaperones: potential treatment for conformational diseases, Trends Endocrinol Metab 15(5) (2004) 222-8.
  • [4] E. Saglar, F. Deniz, B. Erdem, T. Karaduman, A. Yonem, E. Cagiltay, H. Mergen, A large deletion of the AVPR2 gene causing severe nephrogenic diabetes insipidus in a Turkish family, Endocrine 46(1) (2014) 148-53.
  • [5] D.G. Bichet, Chapter 2 V2R Mutations and Nephrogenic Diabetes Insipidus, 2009, pp. 15-29.
  • [6] C.H. Chen, Chen, W.Y., Liu, H.L., Liu, T.T., Tsou, A.P., Lin, C.Y., Chao, T., Qi, Y., Hsiao, K.J., Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients, J Hum Genet. 47(2) (2002) 66-73.
  • [7] D.S. Duzenli, E., Deniz, F., Azal O., Erdem, B., Mergen, H., Mutations in the AVPR2, AVP-NPII, and AQP2 genes in Turkish patients with diabetes insipidus, Endocrine (2012).
  • [8] B. Erdem, A. Schulz, E. Saglar, F. Deniz, T. Schoneberg, H. Mergen, Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus, Endocr Connect 7(1) (2018) 56-64.
  • [9] C.P. Papp E, Chemical chaperones: mechanisms of action and potential use., Handb Exp Pharmacol. 172 (2006) 405-16.
  • [10] J.H. Robben, P.M. Deen, Pharmacological chaperones in nephrogenic diabetes insipidus: possibilities for clinical application, BioDrugs 21(3) (2007) 157-66.
  • [11] J.D. Albright, Reich, M.F., Delos Santos EG, Dusza JP, Sum FW, Venkatesan AM, Coupet J, Chan PS, Ru X, Mazandarani H, Bailey T., 5-Fluoro-2-methyl-N-[4-(5H-pyrrolo[2,1-c]-[1, 4]benzodiazepin-10(11H)-ylcarbonyl)-3-chlorophenyl]benzamide (VPA-985): an orally active arginine vasopressin antagonist with selectivity for V2 receptors., J Med Chem. 41(14) (1998) 2442-4.
  • [12] B. Mouillac, C. Mendre, Pharmacological Chaperones as Potential Therapeutic Strategies for Misfolded Mutant Vasopressin Receptors, Handb Exp Pharmacol 245 (2018) 63-83.
  • [13] S. Diamant, N. Eliahu, D. Rosenthal, P. Goloubinoff, Chemical chaperones regulate molecular chaperones in vitro and in cells under combined salt and heat stresses, J Biol Chem 276(43) (2001) 39586-91.
  • [14] D.S. Yang, C.M. Yip, T.H. Huang, A. Chakrabartty, P.E. Fraser, Manipulating the amyloid-beta aggregation pathway with chemical chaperones, J Biol Chem 274(46) (1999) 32970-4.
  • [15] J.H. Robben, M. Sze, N.A.M. Knoers, P.M.T. Deen, Rescue of vasopressin V2 receptor mutants by chemical chaperones: Specificity and mechanism, Molecular Biology of the Cell 17(1) (2006) 379-386.
  • [16] S. Sato, Ward, C. L., Krouse, M. E., Wine, J. J., and Kopito, R. R., Glycerol reverses the misfolding phenotype of the most common cystic fibrosismutation., J. Biol. Chem. 271 (1996) 635–638.
  • [17] Z. Bebok, C.J. Venglarik, Z. Panczel, T. Jilling, K.L. Kirk, E.J. Sorscher, Activation of DeltaF508 CFTR in an epithelial monolayer, Am J Physiol 275(2) (1998) C599-607.
  • [18] Y.X. Tao, P.M. Conn, Chaperoning G protein-coupled receptors: from cell biology to therapeutics, Endocr Rev 35(4) (2014) 602-47.
  • [19] H.I. Cheong, H.Y. Cho, H.W. Park, I.S. Ha, Y. Choi, Molecular genetic study of congenital nephrogenic diabetes insipidus and rescue of mutant vasopressin V2 receptor by chemical chaperones, Nephrology (Carlton) 12(2) (2007) 113-7.
  • [20] B.K. Tamarappoo, B. Yang, A.S. Verkman, Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus, J Biol Chem 274(49) (1999) 34825-31.
  • [21] T. Arakawa, D. Ejima, Y. Kita, K. Tsumoto, Small molecule pharmacological chaperones: From thermodynamic stabilization to pharmaceutical drugs, Biochim Biophys Acta 1764(11) (2006) 1677-87.
There are 21 citations in total.

Details

Primary Language English
Subjects Engineering
Journal Section Articles
Authors

Beril Erdem Tunçdemir 0000-0002-9820-1147

Tuğçe Karaduman

Merve Özcan Türkmen This is me

Dilara Şahin This is me

Hatice Mergen

Emel Sağlar Özer 0000-0002-8161-827X

Early Pub Date December 30, 2021
Publication Date January 5, 2022
Acceptance Date April 14, 2021
Published in Issue Year 2022 Volume: 50 Issue: 1

Cite

APA Erdem Tunçdemir, B., Karaduman, T., Özcan Türkmen, M., Şahin, D., et al. (2022). CHEMICAL CHAPERONE EFFECTS ON ARGININE-VASOPRESSIN RECEPTOR 2 MUTANTS. Hacettepe Journal of Biology and Chemistry, 50(1), 37-43. https://doi.org/10.15671/hjbc.669854
AMA Erdem Tunçdemir B, Karaduman T, Özcan Türkmen M, Şahin D, Mergen H, Sağlar Özer E. CHEMICAL CHAPERONE EFFECTS ON ARGININE-VASOPRESSIN RECEPTOR 2 MUTANTS. HJBC. January 2022;50(1):37-43. doi:10.15671/hjbc.669854
Chicago Erdem Tunçdemir, Beril, Tuğçe Karaduman, Merve Özcan Türkmen, Dilara Şahin, Hatice Mergen, and Emel Sağlar Özer. “CHEMICAL CHAPERONE EFFECTS ON ARGININE-VASOPRESSIN RECEPTOR 2 MUTANTS”. Hacettepe Journal of Biology and Chemistry 50, no. 1 (January 2022): 37-43. https://doi.org/10.15671/hjbc.669854.
EndNote Erdem Tunçdemir B, Karaduman T, Özcan Türkmen M, Şahin D, Mergen H, Sağlar Özer E (January 1, 2022) CHEMICAL CHAPERONE EFFECTS ON ARGININE-VASOPRESSIN RECEPTOR 2 MUTANTS. Hacettepe Journal of Biology and Chemistry 50 1 37–43.
IEEE B. Erdem Tunçdemir, T. Karaduman, M. Özcan Türkmen, D. Şahin, H. Mergen, and E. Sağlar Özer, “CHEMICAL CHAPERONE EFFECTS ON ARGININE-VASOPRESSIN RECEPTOR 2 MUTANTS”, HJBC, vol. 50, no. 1, pp. 37–43, 2022, doi: 10.15671/hjbc.669854.
ISNAD Erdem Tunçdemir, Beril et al. “CHEMICAL CHAPERONE EFFECTS ON ARGININE-VASOPRESSIN RECEPTOR 2 MUTANTS”. Hacettepe Journal of Biology and Chemistry 50/1 (January 2022), 37-43. https://doi.org/10.15671/hjbc.669854.
JAMA Erdem Tunçdemir B, Karaduman T, Özcan Türkmen M, Şahin D, Mergen H, Sağlar Özer E. CHEMICAL CHAPERONE EFFECTS ON ARGININE-VASOPRESSIN RECEPTOR 2 MUTANTS. HJBC. 2022;50:37–43.
MLA Erdem Tunçdemir, Beril et al. “CHEMICAL CHAPERONE EFFECTS ON ARGININE-VASOPRESSIN RECEPTOR 2 MUTANTS”. Hacettepe Journal of Biology and Chemistry, vol. 50, no. 1, 2022, pp. 37-43, doi:10.15671/hjbc.669854.
Vancouver Erdem Tunçdemir B, Karaduman T, Özcan Türkmen M, Şahin D, Mergen H, Sağlar Özer E. CHEMICAL CHAPERONE EFFECTS ON ARGININE-VASOPRESSIN RECEPTOR 2 MUTANTS. HJBC. 2022;50(1):37-43.

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