Cómo citar
Florez Romero , A., Rojas , W., Reverend L. , C., Torres , L., & Quintero , G. (2021). Proteína moduladora de la actividad del receptor de aril hidrocarburos (AIP): genética, bioquímica e impacto clínico. Revista Repertorio De Medicina Y Cirugía, 30(1), 13-21. https://doi.org/10.31260/RepertMedCir.01217273.888

Autores/as

Andres Florez Romero
Fundación Universitaria de Ciencias de la Salud. Bogotá DC, Colombia.
Bio
William Rojas
Fundación Universitaria de Ciencias de la Salud. Bogotá DC, Colombia.
Bio
Carlos Reverend L.
Fundación Universitaria de Ciencias de la Salud. Bogotá DC, Colombia.
Bio
Lilian Torres
Fundación Universitaria de Ciencias de la Salud
Bio
Gloria Quintero
Fundación Universitaria de Ciencias de la Salud. Bogotá DC, Colombia.
Bio

Resumen

El gen AIP (proteína moduladora de la actividad del receptor de aril hidrocarburos) se localiza en la región 11q13.2 y codifica para una proteína de 330 aminoácidos que interactúa con el factor de transcripción AhR (receptor para aril hidrocarburos). Las mutaciones en este gen se han asociado con adenomas pituitarios aislados de tipo familiar (APAF). Se caracterizan por una presentación temprana (alrededor de 20 años), por lo regular producen hormona de crecimiento y/o prolactina, tienen un comportamiento clínico agresivo y poca respuesta a análogos de somatostatina.

Licencia

Creative Commons License
Esta obra está bajo licencia internacional Creative Commons Reconocimiento-NoComercial-SinObrasDerivadas 4.0.

Citas

1. Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science. 2006;312(5777):1228-30. doi: 10.1126/science.1126100

2. Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain- Rea ML, Barlier A, et al. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab. 2010;95(11):E373-83. doi: 10.1210/jc.2009-2556

3. Beckers A, Aaltonen LA, Daly AF, Karhu A. Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocr Rev. 2013;34(2):239-77. doi: 10.1210/er.2012-1013

4. AIP Gene (Protein Coding). Aryl Hydrocarbon Receptor Interacting Protein [Internet]. The GeneCards human gene database; [citado 2019 enero]; Recuperado de: https://www.genecards.org/cgi-bin/ carddisp.pl?gene=AIP.

5. Exon Structure for AIP [Internet]. GeneLoc Genome Locator; [citado 2019 enero]; Recuperado de: https://genecards.weizmann. ac.il/geneloc-bin/exon_struct.pl?disp_name=AIP&chr_nr=11)..

6. Gadelha MR, Trivellin G, Hernández Ramírez LC, Korbonits M. Genetics of pituitary adenomas. Front Horm Res. 2013;41:111-40. doi: 10.1159/000345673

7. Hernández-Ramírez LC, Martucci F, Morgan RM, Trivellin G, Tilley D, Ramos-Guajardo N, et al. Rapid Proteasomal Degradation of Mutant Proteins Is the Primary Mechanism Leading to Tumorigenesis in Patients With Missense AIP Mutations. J Clin Endocrinol Metab. 2016;101(8):3144-54. doi: 10.1210/jc.2016- 1307

8. Lecoq AL, Viengchareun S, Hage M, Bouligand J, Young J, Boutron A, et al. AIP mutations impair AhR signaling in pituitary adenoma patients fibroblasts and in GH3 cells. Endocr Relat Cancer. 2016;23(5):433-43. doi: 10.1530/ERC-16-0041

9. Tuominen I, Heliövaara E, Raitila A, Rautiainen MR, Mehine M, Katainen R, et al. AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling. Oncogene. 2015;34(9):1174-84. doi: 10.1038/onc.2014.50

10. Hernández-Ramírez LC, Trivellin G, Stratakis CA. Role of Phosphodiesterases on the Function of Aryl Hydrocarbon Receptor-Interacting Protein (AIP) in the Pituitary Gland and on the Evaluation of AIP Gene Variants. Horm Metab Res. 2017;49(4):286-95. doi: 10.1055/s-0043-104700

11. Trivellin G, Korbonits M. AIP and its interacting partners. J Endocrinol. 2011;210(2):137-55. doi: 10.1530/JOE-11-0054

12. Lloyd C, Grossman A. The AIP (aryl hydrocarbon receptor- interacting protein) gene and its relation to the pathogenesis of pituitary adenomas. Endocrine. 2014;46(3):387-96. doi: 10.1007/ s12020-013-0125-6

13. Fajardo-Montañana C, Daly AF, Riesgo-Suárez P, Gómez-Vela J, Tichomirowa MA, Camara-Gómez R, et al. [AIP mutations in familial and sporadic pituitary adenomas: local experience and review of the literature]. Endocrinol Nutr. 2009;56(7):369-77. doi: 10.1016/S1575-0922(09)72456-8

14. Cannavo S, Trimarchi F, Ferraù F. Acromegaly, genetic variants of the aryl hydrocarbon receptor pathway and environmental burden. Mol Cell Endocrinol. 2017;457:81-8. doi: 10.1016/j. mce.2016.12.019

15. Chahal HS, Chapple JP, Frohman LA, Grossman AB, Korbonits M. Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA). Trends Endocrinol Metab. 2010;21(7):419-27. doi: 10.1016/j.tem.2010.02.007

16. Formosa R, Xuereb-Anastasi A, Vassallo J. Aip regulates cAMP signalling and GH secretion in GH3 cells. Endocr Relat Cancer. 2013;20(4):495-505. doi: 10.1530/ERC-13-0043

17. Raitila A, Lehtonen HJ, Arola J, Heliövaara E, Ahlsten M, Georgitsi M, et al. Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression. Am J Pathol. 2010;177(4):1969-76. doi: 10.2353/ajpath.2010.100138

18. Goldfarb SB, Kashlan OB, Watkins JN, Suaud L, Yan W, Kleyman TR, et al. Differential effects of Hsc70 and Hsp70 on the intracellular trafficking and functional expression of epithelial sodium channels. Proc Natl Acad Sci U S A. 2006;103(15):5817-22. doi: 10.1073/pnas.0507903103

19. Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, et al. Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat. 2010;31(8):950-60. doi: 10.1002/humu.21292

20. Barlier A, Vanbellinghen JF, Daly AF, Silvy M, Jaffrain-Rea ML, Trouillas J, et al. Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. J Clin Endocrinol Metab. 2007;92(5):1952-5. doi: 10.1210/jc.2006-2702

21. Formosa R, Vassallo J. Aryl Hydrocarbon Receptor-Interacting Protein (AIP) N-Terminus Gene Mutations Identified in Pituitary Adenoma Patients Alter Protein Stability and Function. Horm Cancer. 2017;8(3):174-84. doi: 10.1007/s12672-017-0288-3

22. Rostomyan L, Potorac I, Beckers P, Daly AF, Beckers A. AIP mutations and gigantism. Ann Endocrinol (Paris). 2017;78(2):123- 30. doi: 10.1016/j.ando.2017.04.012

23. Korbonits M, Storr H, Kumar AV. Familial pituitary adenomas - who should be tested for AIP mutations? Clin Endocrinol (Oxf). 2012;77(3):351-6. doi: 10.1111/j.1365-2265.2012.04445.x

24. Iwata T, Yamada S, Mizusawa N, Golam HM, Sano T, Yoshimoto K. The aryl hydrocarbon receptor-interacting protein gene is rarely mutated in sporadic GH-secreting adenomas. Clin Endocrinol (Oxf). 2007;66(4):499-502. doi: 10.1111/j.1365-2265.2007.02758.x

25. Tichomirowa MA, Barlier A, Daly AF, Jaffrain-Rea ML, Ronchi C, Yaneva M, et al. High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol. 2011;165(4):509-15. doi: 10.1530/EJE-11-0304

26. Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, et al. Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab. 2007;92(5):1891- 6. doi: 10.1210/jc.2006-2513

27. Gadelha MR, Kasuki L, Korbonits M. The genetic background of acromegaly. Pituitary. 2017;20(1):10-21. doi: 10.1007/s11102-017- 0789-7

28. Kasuki Jomori de Pinho L, Vieira Neto L, Armondi Wildemberg LE, Gasparetto EL, Marcondes J, de Almeida Nunes B, et al. Low aryl hydrocarbon receptor-interacting protein expression is a better marker of invasiveness in somatotropinomas than Ki-67 and p53. Neuroendocrinology. 2011;94(1):39-48. doi: 10.1159/000322787

29. Oriola J, Lucas T, Halperin I, Mora M, Perales MJ, Alvarez-Escolá C, et al. Germline mutations of AIP gene in somatotropinomas resistant to somatostatin analogues. Eur J Endocrinol. 2013;168(1):9-13. doi: 10.1530/EJE-12-0457

30. Ibáñez-Costa A, Korbonits M. AIP and the somatostatin system in pituitary tumours. J Endocrinol. 2017;235(3):R101-R16. doi: 10.1530/JOE-17-0254

31. Chahal HS, Trivellin G, Leontiou CA, Alband N, Fowkes RC, Tahir A, et al. Somatostatin analogs modulate AIP in somatotroph adenomas: the role of the ZAC1 pathway. J Clin Endocrinol Metab. 2012;97(8):E1411-20. doi: 10.1210/jc.2012-1111

32. Tong A, Jiang J, Wang F, Li C, Zhang Y, Wu X. Pure androgen- producing adrenal tumor: clinical features and pathogenesis. Endocr Pract. 2017;23(4):399-407. doi: 10.4158/EP161580.OR

33. Georgitsi M, Karhu A, Winqvist R, Visakorpi T, Waltering K, Vahteristo P, et al. Mutation analysis of aryl hydrocarbon receptor interacting protein (AIP) gene in colorectal, breast, and prostate cancers. Br J Cancer. 2007;96(2):352-6. doi: 10.1038/sj.bjc.6603573

34. Raitila A, Georgitsi M, Karhu A, Tuppurainen K, Mäkinen MJ, Birkenkamp-Demtröder K, et al. No evidence of somatic aryl hydrocarbon receptor interacting protein mutations in sporadic endocrine neoplasia. Endocr Relat Cancer. 2007;14(3):901-6. doi: 10.1677/ERC-07-0025

35. Raitila A, Georgitsi M, Bonora E, Vargiolu M, Tuppurainen K, Mäkinen MJ, et al. Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer. J Endocrinol Invest. 2009;32(5):426-9. doi: 10.1007/BF03346480

36. Magnusson L, Hansen N, Saba KH, Nilsson J, Fioretos T, Rissler P, et al. Loss of the tumour suppressor gene AIP mediates the browning of human brown fat tumours. J Pathol. 2017;243(2):160- 4. doi: 10.1002/path.4945

37. Pardi E, Marcocci C, Borsari S, Saponaro F, Torregrossa L, Tancredi M, et al. Aryl hydrocarbon receptor interacting protein (AIP) mutations occur rarely in sporadic parathyroid adenomas. J Clin Endocrinol Metab. 2013;98(7):2800-10. doi: 10.1210/jc.2012-4029

Descargas

La descarga de datos todavía no está disponible.
Coordinador Editorial

Leonardo Arismendy Rodriguez
jlarismendy@fucsalud.edu.co
Fundación Universitaria de Ciencias de la Salud - FUCS
Bogotá DC, Colombia
Dirección: Carrera 19 No. 8 A 32
Tel: (+571) 3538100 Ext. 2836

Asistente Editorial

Gloria Restrepo B.
revista.repertorio@fucsalud.edu.co
Fundación Universitaria de Ciencias de la Salud - FUCS
Bogotá DC, Colombia
Dirección: Carrera 19 No. 8 A 32
Tel: (+571) 3538100 Ext. 2836


Vigilada Mineducación

Sistema OJS 3 - Metabiblioteca |