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Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2008, Número 3

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Rev Invest Clin 2008; 60 (3)


Mutaciones en el gen de arginina vasopresina neurofisina II en pacientes con diabetes insípida neurohipofisiaria familiar

Peralta-Leal V, Durán-González J, Leal-Ugarte E

Idioma: Español
Referencias bibliográficas: 63
Paginas: 255-262
Archivo PDF: 111.03 Kb.


RESUMEN

La diabetes insípida neurogénica (DIN) es una enfermedad poco frecuente caracterizada por poliuria y polidipsia ocasionada por la producción de una hormona arginina vasopresina (AVP) deficiente. En la forma familiar de diabetes insípida autosómica dominante (DINFad), se han identificado más de 50 mutaciones asociadas con la enfermedad. Estas mutaciones pueden causar citotoxicidad y conducir a la degeneración de neuronas magnocelulares de la hipófisis por acumulación de proteínas aberrantes. El diagnóstico de DIN se basa en la prueba de privación de líquidos, cuantificación de hormona AVP e imagen de resonancia magnética (IRM), por lo que se ha sugerido además a familias con historia de DINFad el análisis molecular en búsqueda de mutaciones en el gen arginina vasopresina neurofisina II AVP-NPII antes del desarrollo de síntomas, con la finalidad de ofrecer un adecuado diagnóstico, seguimiento clínico y tratamiento. El tratamiento con un análogo sintético de la hormona AVP permite la remisión de los signos y síntomas en los pacientes y los avances en terapia génica en modelos animales han sido prometedores, tanto para DIN como para otras enfermedades en las que se ha involucrado la producción de proteínas mutantes.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Lindholm J. Diabetes insipidus: historical aspects. Pituitary 2004; 7: 33-3.

  2. Ball S. Diabetes insipidus. Medicine 2005; 33: 18-9.

  3. Mahía J, Bernal A. Trastornos del comportamiento regulatorio: polidipsia primaria, polidipsia secundaria y su tratamiento. Int J Clin Health Psychol 2007; 7: 509-25.

  4. Abbes AP, Bruggeman B, van Den Akker EL, de Groot MR, Franken AA, Drexhage VR, Engel H. Identification of two distinct mutations at the same nucleotide position, concomitantly with a novel polymorphism in the vasopressin-neurophysin II gene (AVP-NP II) in two dutch families with familial neurohypophyseal diabetes insipidus. Clin Chem 2000; 46: 1699- 702.

  5. Nijenhuis M, van den Akker EL, Zalm R, Franken AA, Abbes AP, Engel H, de Wied D, Burbach JP. Familial neurohypophysial diabetes insipidus in a large Dutch kindred: effect of the onset of diabetes on growth in children and cell biological de fects of the mutant vasopressin prohormone. J Clin Endocrinol Metab 2001; 86: 3410-20.

  6. Wahlstrom JT, Fowler MJ, Nicholson WE, Kovacs WJ. A novel mutation in the preprovasopressin gene identified in a kindred with autosomal dominant neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab 2004; 89: 1963-8.

  7. Fujiwara TM, Bichet DG. Molecular biology of hereditary diabetes insipidus. J Am Soc Nephrol 2005; 16: 2836-46.

  8. Pivonello R, De Bellis A, Faggiano A, Di Salle F, Petretta M, Di Somma C, et al. Central diabetes insipidus and autoimmunity: relationship between the occurrence of antibodies to arginine vasopressin-secreting cells and clinical, immunological, and radiological features in a large cohort of patients with central diabetes insipidus of known and unknown etiology. J Clin Endocrinol Metab 2003; 88: 1629-36.

  9. Ito M, Mori Y, Oiso Y, Saito H. A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. J Clin Invest 1991; 87: 725-8.

  10. Ghirardello S, Malattia C, Scagnelli P, Maghnie M. Current perspective on the pathogenesis of central diabetes insipidus. J Pediatr Endocrinol Metab 2005; 18(7): 631-45.

  11. Mohn A, Acerini CL, Cheetham TD, Lightman SL, Dunger DB. Hypertonic saline test for the investigation of posterior pituitary function. Arch Dis Child 1998; 79: 431-4.

  12. Repaske DR, Summar ML, Krishnamani MRS. Recurrent mutations in the vasopressin-neurophysin II gene cause autosomal dominant neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab 1996; 81: 2328-34.

  13. Krishnamani MR, Phillips JA 3rd, Copeland KC. Detection of a novel arginine vasopressin defect by dideoxy fingerprinting. J Clin Endocrinol Metab 1993; 77: 596-8.

  14. McLeod JF, Kovacs L, Gaskill MB, Rittig S, Bradley GS, Robertson GL. Familial neurohypophyseal diabetes insipidus associated with a signal peptide mutation. J Clin Endocrinol Metab 1993; 77: 599A-G.

  15. Grant FD, Ahmadi A, Hosley CM, Majzoub JA. Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant. J Clin Endocrinol Metab 1998; 83: 3958-64.

  16. Siggaard C, Rittig S, Corydon TJ, Andreasen PH, Jensen TG, Andresen BS, Robertson GL, Gregersen N, Bolund L, Pedersen EB. Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation. J Clin Endocrinol Metab 1999; 84: 2933-41.

  17. Rutishauser J, Kopp P, Gaskill MB, Kotlar TJ, Robertson GL. Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene. Eur J Endocrinol 2002; 146: 649-56.

  18. Christensen JH, Siggaard C, Corydon TJ, Robertson GL, Gregersen N, Bolund L, Rittig S. Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab 2004; 89: 4521-31.

  19. Heppner C, Kotzka J, Bullmann C, Krone W, Muller-Wieland D. Identification of mutations of the arginine vasopressin-neurophysin II gene in two kindreds with familial central diabetes insipidus. J Clin Endocrinol Metab 1998; 83: 693-6.

  20. Rittig S, Siggaard C, Ozata M, Yetkin I, Gregersen N, Pedersen EB, Robertson GL. Autosomal dominant neurohypophyseal diabetes insipidus due to substitution of histidine for tyrosine 2 in the vasopressin moiety of the hormone precursor. J Clin Endocrinol Metab 2002; 87: 3351-5.

  21. Ye L, Li X, Chen Y, Sun H, Wang W, Su T, Jiang L, Cui B, Ning G. Autosomal dominant neurohypophyseal diabetes insipidus with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene. J Clin Endocrinol Metab 2005; 90: 4388-93.

  22. Kwon TH, Hager H, Nejsum LN, Andersen ML, Frokiaer J, Nielsen S. Physiology and pathophysiology of renal aquaporins. Semin Nephrol 2001; 21: 231-8.

  23. Carrillo ER, González SJ, Calvo CB. Uso de la vasopresina en el estado de choque. Gac Méd Méx 2004; 140: 71-6.

  24. Yuasa H, Ito M, Nagasaki H, Oiso Y, Miyamoto S, Sasaki N, Saito H. Glu-47, which forms a salt bridge between neurophysin- II and arginine vasopressin, is deleted in patients with familial central diabetes insipidus. J Clin Endocrinol Metab 1993; 77: 600-4.

  25. Robertson GL. Antidiuretic hormone. Normal and disordered function. Endocrinol Metab Clin North Am 2001; 30: 671-94.

  26. Miller WL. Molecular genetics of familial central diabetes insipidus. J Clin Endocrinol Metab 1993; 77: 592-5.

  27. Sausville E, Carney D, Battey J. The human vasopressin gene is linked to the oxytocin gene and is selectively expressed in a cultured lung cancer cell line. J Biol Chem 1985; 260: 10236-41.

  28. Friberg MA, Spiess M, Rutishauser J. Degradation of wild-type vasopressin precursor and pathogenic mutants by the proteasome. J Biol Chem 2004; 279: 19441-7.

  29. Bahnsen U, Oosting P, Swaab DF, Nahke P, Richte D, Schmale H. A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus. EMBO J 1992; 11: 19-23.

  30. Calvo B, Bilbao JR, Urrutia I, Eizaguirre J, Gaztambide S, Castaño L. Identification of a novel nonsense mutation and a missense substitution in the vasopressin-neurophysin II gene in two Spanish kindreds with familial neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab 1998; 83: 995-7.

  31. Willcutts MD, Felner E, White PC. Autosomal recessive familial neurohypophyseal diabetes insipidus with continued secretion of mutant weakly active vasopressin. Hum Molec Genet 1999; 8: 1303-07.

  32. Rutishauser J, Boni-Schnetzler M, Boni J, Wichmann W, Huisman T, Vallotton MB, Froesch ER. A novel point mutation in the translation initiation codon of the pre-pro-vasopressin-neurophysin II gene: cosegregation with morphological abnormalities and clinical symptoms in autosomal dominant neurohypophyseal diabetes. J Clin Endocrinol Metab 1996; 81: 192-8.

  33. Rittig S, Robertson GL, Siggaard C, Kovács L, Gregersen N, Nyborg J, Pedersen EB. Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus. Am J Hum Genet 1996; 58: 107-17.

  34. Ito M, Oiso Y, Murase T, Kondo K, Saito H, Chinzei T, Racchi M, Lively MO. Possible involvement of inefficient cleavage of preprovasopressin by signal peptidase as a cause for familial central diabetes insipidus. J Clin Invest 1993; 91: 2565-71.

  35. Rutishauser J, Kopp P, Gaskill MB, Kotlar TJ, Robertson GL. A novel mutation (R97C) in the neurophysin moiety of preprovasopressin- neurophysin II associated with autosomal-dominant neurohypophyseal diabetes insipidus. Mol Genet Metab 1999; 67: 89-92.

  36. Baglioni S, Corona G, Maggi M, Serio M, Peri A. Identification of a novel mutation in the arginine vasopressin-neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety. Eur J Endocrinol 2004; 151: 605-11.

  37. DiMeglio LA, Gagliardi PC, Browning JE, Quigley CA, Repaske DR. A missense mutation encoding cys(67)gly in neurophysin II is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus. Mol Genet Metab 2001; 72: 39-44.

  38. Santiprabhob J, Browning J, Repaske D. A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. Mol Genet Metab 2002; 77: 112-18.

  39. Gagliardi PC, Bernasconi S, Repaske DR. Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23?Val in neurophysin II. J Clin Endocrinol Metab 1997; 82: 3643-6.

  40. Repaske D, Browning J. A de novo mutation in the coding sequence for neurophysin-II (Pro24-Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus. J Clin Endocrinol Metab 1994; 79: 421-7.

  41. Wolf MT, Dotsch J, Metzler M, Holder M, Repp R, Rascher W. A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. Horm Res 2003; 60: 143-7.

  42. Skordis N, Patsalis PC, Hettinger JA, Kontou M, Herakleous E, Krishnamani MR, Phillips JA 3rd. A novel arginine vasopressin- neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes. Hormone Research 2000; 53: 239-45.

  43. Miyakoshi M, Kamoi K, Murase T, Sugimura Y, Oiso Y. Novel mutant vasopressin-neurophysin II gene associated with familial neurohypophyseal diabetes insipidus. Endocr J 2004; 51: 551-6.

  44. Nagasaki H, Ito M, Yuasa H, Saito H, Fukase M, Hamada K, Ishikawa E, Katakami H, Oiso Y. Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. J Clin Endocrinol Metab 1995; 80: 1352-6.

  45. Ueta Y, Taniguchi S, Yoshida A, Murakami I, Mitani Y, Hisatome I, Manabe I, Sato R, Tsuboi M, Ohtahara A, Nanba E, Shigemasa C. A new type of familial central diabetes insipidus caused by a single base substitution in the neurophysin II coding region of the vasopressin gene. J Clin Endocrinol Metab 1996; 81: 1787-90.

  46. Elias PC, Elias LL, Torres N, Moreira AC, Antunes-Rodrigues J, Castro M. Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. Clin Endocrinol (Oxf) 2003; 59: 511-8.

  47. Fujii H, Iida S, Moriwaki K. Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin- neurophysin II gene. Int J Mol Med 2000; 5: 229-34.

  48. Bullmann C, Kotzka J, Grimm T. Identification of a novel mutation in the arginine vasopressin–neurophysin II gene in familial central diabetes insipidus. Exp Clin Endocrinol Diabetes 2002; 110: 134-7.

  49. Schmale H, Richter D. Single base deletion in the vasopressin gene is the cause of diabetes insipidus in Brattleboro rats. Nature 1984; 308: 705-9.

  50. Schmale H, Borowiak B, Holtgreve-Grez H, Richter D. Impact of altered protein structures on the intracellular traffic of a mutated vasopressin precursor from Brattleboro rats. Eur J Biochem 1989; 182: 621-7.

  51. van den Akker EL, de Groot MR, Abbes AP, Bruggeman EJ, Franken AA, Engel H. Identification of a new mutation (CysII6Gly) in a family with neurogenic diabetes insipidus. Ned Tijdschr Geneeskd 2000; 144: 941-5.

  52. Nijenhuis M, Zalm R, Burbach JP. Mutations in the vasopressin prohormone involved in diabetes insipidus impair endoplasmic reticulum export but not sorting. J Biol Chem 1999; 274: 21200-08.

  53. Calvo B, Bilbao JR, Rodriguez A, Rodriguez-Arnao MD, Castaño L. Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier. J Clin Endocrinol Metab 1999; 84: 3351-4.

  54. Mahoney CP, Weinberger E, Bryant C, Ito M, Jameson JL, Ito M. Effects of aging on vasopressin production in a kindred with autosomal dominant neurohypophyseal diabetes insipidus due to the DeltaE47 neurophysin mutation. J Clin Endocrinol Metab 2002; 87: 870-6.

  55. Nijenhuis M, Zalm R, Burbach JP. A diabetes insipidus vasopressin prohormone altered outside the central core of neurophysin accumulates in the endoplasmic reticulum. Mol Cell Endocrinol 2000; 167: 55-67.

  56. Beuret N, Rutishauer 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.

  57. Repaske DR, Medlej R, Gultekin EK. Heterogeneity in clinical manifestation of autosomal dominant neurohypophyseal diabetes insipidus caused by a mutation encoding Ala-1-Val in the signal peptide of the arginine vasopressin/neurophysin II/copeptin precursor. J Clin Endocrinol Metab 1997; 82: 51-6.

  58. Kanemitsu N, Kawauchi A, Nishida M. Familial central diabetes insipidus detected by nocturnal enuresis. Pediatr Nephrol 2002; 17: 1063-5.

  59. Boson WL, Sarubi JC, D’Alva CB. A signal peptide mutation of the arginine vasopressin gene in monozygotic twins. Clin Endocrinol (Oxf) 2003; 58: 108-10.

  60. Ito M, Yu RN, Jameson JL, Ito M. Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wildtype proteins. J Biol Chem 1999; 274: 9029-37.

  61. Ito M, Jameson JL, Ito M. Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum. J Clin Invest 1997; 99: 1897-905.

  62. Holcomb SS. Diabetes insipidus. Dimens Crit Care Nurs 2002; 21: 94-7.

  63. Yoshida M, Iwasaki Y, Asai M, Nigawara T, Oiso Y. Gene therapy for central diabetes insipidus: effective antidiuresis by muscle-targeted gene transfer. Endocrinology 2004; 145: 261-8.




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