Hutchinson-Gilford Syndrome
Hutchinson-Gilford Syndrome
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Title: | Hutchinson-Gilford Syndrome |
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Article_Title: | Hutchinson-Gilford Syndrome |
Authors: | Ileana Olteanu, Maria Crisan, Diana Crişan, Andrei Kozan |
Affiliation: | ”Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania |
Abstract: | ABSTRACT. It is a rare genetic disease, which manifests by an accelerated senescence process of tissues and organs, without mental impairment. We propose an update of the international literature data on the early diagnosis, the therapy (genetic engineering and farnesyltransferase inhibitors) and the prevention of the disease, as well as on the mechanisms involved in its production. We aim to extend the study to cell cultures acquired from Progeria Research Foundation. |
Keywords: | senescence, lamin, farnesyltransferase inhibitors |
References: | 1. Hutchinson, J. (1886) Medicochir. Trans. 69, 473–477 2. DeBusk, F. L. (1972) J. Pediatr. 80, 697–724. 3. Baker, P. B., Baba, N. & Boesel, C. P. (1981) Arch. Pathol. Lab. Med. 105, 384–386. 4. Sarkar, P. K. & Shinton, R. A. (2001) Postgrad. Med. J. 77, 312–317. 5. Progeria Research Foundation: www.progeriaresearch.org 6. Ramírez CL, Cadiñanos J, Varela I, Freije JM, López-Otín C. Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions. Cell Mol Life Sci. 2007 Jan;64(2):155-70 7. De Sandre-Giovannoli, A., Bernard, R., Cau, P., Navarro, C., Amiel, J.,Boccaccio, I., Lyonnet, S., Stewart, C. L., Munnich, A., Le Merrer, M., et al.(2003) Science 300, 2055. 8. Goldman, R. D., Gruenbaum, Y., Moir, R. D., Shumaker, D. K. & Spann, T. P.(2002) Genes Dev. 16, 533–547. 9. Gruenbaum, Y., Margalit, A., Goldman, R. D., Shumaker, D. K. & Wilson,K. L. (2005) Nat. Rev. Mol. Cell Biol. 6, 21–31. 10. Beck, L. A., Hosick, T. J. & Sinensky, M. (1990) J. Cell Biol. 110,1489–1499. 11. Eriksson, M., Brown, W. T., Gordon, L. B., Glynn, M. W., Singer, J., Scott, L., Erdos, M. R., Robbins, C. M., Moses, T. Y., Berglund, P., et al. (2003) Nature 423, 293–298. 12. Hennekes, H. & Nigg, E. A. (1994) J. Cell Sci. 107, 1019–1029 13. Bergo, M. O., Gavino, B., Ross, J., Schmidt, W. K., Hong, C., Kendall, L. V.,Mohr, A., Meta, M., Genant, H., Jiang, Y., et al. (2002) Proc. Natl. Acad. Sci.USA 99, 13049–13054.Capell et al. PNAS September 6, 2005 vol. 102 no. 36 12883 MEDICAL SCIENCES 14. Dai, Q., Choy, E., Chiu, V., Romano, J., Slivka, S. R., Stietz, S. A., Michaelis, S. & Phillips, M. R. (1998) J. Biol. Chem. 273, 15030–15034. 15. Goldman, R. D., Shumaker, D. K., Erdos, M. R., Eriksson, M., Goldman, A. E.,Gordon, L. B., Gruenbaum, Y., Khuon, S., Mendez, M., Varga, R., et al. (2004) Proc. Natl. Acad. Sci. USA 101, 8963–8968. 16. Kudlow BA, Kennedy BK.Aging: progeria and the lamin connection. Curr Biol. 2006 Aug 22;16(16):R652-4. Review. 17. Kudlow BA, Kennedy BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat Rev Mol Cell Biol. May 2007;8(5):394-404 18. Hennekam RC.Hutchinson-Gilford progeria syndrome: review of the phenotype.Am J Med Genet A. 2006 Dec 1;140(23):2603-24. 19. SS Gellis, M. Feingold. Atlas of Mental Retardation Syndromes.1968 20. Bishop, W. R., Bond, R., Petrin, J., Wang, L., Patton, R., Doll, R., Njoroge, G.,Catino, J., Schwartz, J. & Windsor, W. (1995) J. Biol. Chem. 270, 30611–30618. 21. Sebti, S. M. & Der, C. J. (2003) Nat. Rev. Cancer 3, 945–951. 22. Young SG, Meta M, Yang SH, Fong LG. Prelamin A farnesylation and progeroid syndromes.J Biol Chem. 2006 Dec 29;281(52):39741-5. Epub 2006 Nov 7. 23. Liu Y, Rusinol A, Sinensky M, Wang Y, Zou Y. DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A.J Cell Sci. 2006 Nov 15;119(Pt 22):4644-9. Epub 2006 Oct 24. Meta M, Yang SH, Bergo MO, Fong LG, Young SG.Protein farnesyltransferase inhibitors and progeria. Trends Mol Med. 2006 Oct;12(10):480-7. Epub 2006 Aug 30. |
Read_full_article: | pdf/vol12/iss2/JMA12-2-09Olteanu.pdf |
Correspondence: | Ileana Olteanu, ”Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania |
Read full article | |
Article Title: | Hutchinson-Gilford Syndrome |
Authors: | Ileana Olteanu, Maria Crisan, Diana Crişan, Andrei Kozan |
Affiliation: | ”Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania |
Abstract: | ABSTRACT. It is a rare genetic disease, which manifests by an accelerated senescence process of tissues and organs, without mental impairment. We propose an update of the international literature data on the early diagnosis, the therapy (genetic engineering and farnesyltransferase inhibitors) and the prevention of the disease, as well as on the mechanisms involved in its production. We aim to extend the study to cell cultures acquired from Progeria Research Foundation. |
Keywords: | senescence, lamin, farnesyltransferase inhibitors |
References: | 1. Hutchinson, J. (1886) Medicochir. Trans. 69, 473–477 2. DeBusk, F. L. (1972) J. Pediatr. 80, 697–724. 3. Baker, P. B., Baba, N. & Boesel, C. P. (1981) Arch. Pathol. Lab. Med. 105, 384–386. 4. Sarkar, P. K. & Shinton, R. A. (2001) Postgrad. Med. J. 77, 312–317. 5. Progeria Research Foundation: www.progeriaresearch.org 6. Ramírez CL, Cadiñanos J, Varela I, Freije JM, López-Otín C. Human progeroid syndromes, aging and cancer: new genetic and epigenetic insights into old questions. Cell Mol Life Sci. 2007 Jan;64(2):155-70 7. De Sandre-Giovannoli, A., Bernard, R., Cau, P., Navarro, C., Amiel, J.,Boccaccio, I., Lyonnet, S., Stewart, C. L., Munnich, A., Le Merrer, M., et al.(2003) Science 300, 2055. 8. Goldman, R. D., Gruenbaum, Y., Moir, R. D., Shumaker, D. K. & Spann, T. P.(2002) Genes Dev. 16, 533–547. 9. Gruenbaum, Y., Margalit, A., Goldman, R. D., Shumaker, D. K. & Wilson,K. L. (2005) Nat. Rev. Mol. Cell Biol. 6, 21–31. 10. Beck, L. A., Hosick, T. J. & Sinensky, M. (1990) J. Cell Biol. 110,1489–1499. 11. Eriksson, M., Brown, W. T., Gordon, L. B., Glynn, M. W., Singer, J., Scott, L., Erdos, M. R., Robbins, C. M., Moses, T. Y., Berglund, P., et al. (2003) Nature 423, 293–298. 12. Hennekes, H. & Nigg, E. A. (1994) J. Cell Sci. 107, 1019–1029 13. Bergo, M. O., Gavino, B., Ross, J., Schmidt, W. K., Hong, C., Kendall, L. V.,Mohr, A., Meta, M., Genant, H., Jiang, Y., et al. (2002) Proc. Natl. Acad. Sci.USA 99, 13049–13054.Capell et al. PNAS September 6, 2005 vol. 102 no. 36 12883 MEDICAL SCIENCES 14. Dai, Q., Choy, E., Chiu, V., Romano, J., Slivka, S. R., Stietz, S. A., Michaelis, S. & Phillips, M. R. (1998) J. Biol. Chem. 273, 15030–15034. 15. Goldman, R. D., Shumaker, D. K., Erdos, M. R., Eriksson, M., Goldman, A. E.,Gordon, L. B., Gruenbaum, Y., Khuon, S., Mendez, M., Varga, R., et al. (2004) Proc. Natl. Acad. Sci. USA 101, 8963–8968. 16. Kudlow BA, Kennedy BK.Aging: progeria and the lamin connection. Curr Biol. 2006 Aug 22;16(16):R652-4. Review. 17. Kudlow BA, Kennedy BK, Monnat RJ Jr. Werner and Hutchinson-Gilford progeria syndromes: mechanistic basis of human progeroid diseases. Nat Rev Mol Cell Biol. May 2007;8(5):394-404 18. Hennekam RC.Hutchinson-Gilford progeria syndrome: review of the phenotype.Am J Med Genet A. 2006 Dec 1;140(23):2603-24. 19. SS Gellis, M. Feingold. Atlas of Mental Retardation Syndromes.1968 20. Bishop, W. R., Bond, R., Petrin, J., Wang, L., Patton, R., Doll, R., Njoroge, G.,Catino, J., Schwartz, J. & Windsor, W. (1995) J. Biol. Chem. 270, 30611–30618. 21. Sebti, S. M. & Der, C. J. (2003) Nat. Rev. Cancer 3, 945–951. 22. Young SG, Meta M, Yang SH, Fong LG. Prelamin A farnesylation and progeroid syndromes.J Biol Chem. 2006 Dec 29;281(52):39741-5. Epub 2006 Nov 7. 23. Liu Y, Rusinol A, Sinensky M, Wang Y, Zou Y. DNA damage responses in progeroid syndromes arise from defective maturation of prelamin A.J Cell Sci. 2006 Nov 15;119(Pt 22):4644-9. Epub 2006 Oct 24. Meta M, Yang SH, Bergo MO, Fong LG, Young SG.Protein farnesyltransferase inhibitors and progeria. Trends Mol Med. 2006 Oct;12(10):480-7. Epub 2006 Aug 30. |
*Correspondence: | Ileana Olteanu, ”Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania |