medigraphic.com
ISSN 0016-3813 (Impreso)

2019, Número 1

<< Anterior Siguiente >>

Gac Med Mex 2019; 155 (1)


Alteración del gen AMELX en amelogénesis imperfecta. Una breve revisión

Tremillo-Maldonado O, Molina-Frechero N, González-González R, Bologna-Molina R

Idioma: Español
Referencias bibliográficas: 49
Paginas: 101-107
Archivo PDF: 256.22 Kb.


RESUMEN

La amelogénesis imperfecta es un grupo de trastornos de desarrollo del esmalte dental asociados principalmente con mutaciones en el gen AMELX. Clínicamente presenta diferentes fenotipos que afectan la estructura y función del esmalte, tanto de la dentición primaria como secundaria. El objetivo de este estudio fue realizar una revisión bibliográfica de las funciones y mutaciones de AMELX relacionadas con amelogénesis imperfecta. Se llevó a cabo una revisión bibliográfica en dos bases de datos: PubMed y Web of Science, usando las palabras clave “AMELX”, “amelogenina”, “amelogénesis imperfecta” y “mutación de AMELX”. Fueron revisados 40 artículos y se encontró que AMELX es el gen predominante en el desarrollo del esmalte dental y de la amelogénesis imperfecta, alterando la estructura de la amelogenina. En los últimos años se han descrito las características en el proceso de amelogénesis imperfecta con diferentes fenotipos de esmalte hipoplásico o hipomineralizado y se han reportado diferentes mutaciones, con lo que se ha determinado la secuenciación del gen y las posiciones de las mutaciones.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Hu JC, Chun YH, Al Hazzazzi T, Simmer JP. Enamel formation and amelogenesis imperfecta. Cells Tissues Organs. 2007;186:78-85.

  2. Prasad MK, Laouina S, El-Alloussi M, Dollfus H, Bloch-Zupan A. Amelogenesis imperfecta: 1 family, 2 phenotypes, and 2 mutated genes. J Dent Res. 2016;95:1457-1463.

  3. Cho ES, Kim KJ, Lee KE, Lee EJ, Yun CY, Lee MJ, et al. Alteration of conserved alternative splicing in AMELX causes enamel defects. J Dent Res. 2014;93:980-987.

  4. Crawford PJ, Aldred M, Bloch-Zupan A. Amelogenesis imperfecta. Orphanet J Rare Dis. 2007;2:17.

  5. Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD. MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet. 2005;42 271-275.

  6. Witkop CJ. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. 1988;17:547-553.

  7. Gadhia K, McDonald S, Arkutu N, Malik K. Amelogenesis imperfecta: an introduction. Br Dent J. 2012;212:377-379.

  8. Altug-Atac AT, Erdem D. Prevalence and distribution of dental anomalies in orthodontic patients. Am J Orthod Dentofacial Orthop. 2007;131:510-514.

  9. Bäckman B, Holm A K. Amelogenesis imperfecta: prevalence and incidence in a northern Swedish county. Community Dent Oral Epidemiol. 1986;14:43-47.

  10. Sedano HO. Congenital oral anomalies in Argentinian children. Community Dent Oral Epidemiol. 1975;3 61-63.

  11. Chosack A, Eidelman E, Wisotski I, Cohen T. Amelogenesis imperfecta among Israeli Jews and the description of a new type of local hypoplastic autosomal recessive amelogenesis imperfecta. Oral Surg Oral Med Oral Pathol. 1979;47:148-156.

  12. Gupta SK, Saxena P, Jain S, Jain D. Prevalence and distribution of selected developmental dental anomalies in an Indian population. J Oral Sci. 2011;53:231-238.

  13. Bilge NH, Yeşiltepe S, Törenek-Ağırman K, Çağlayan F, Bilge OM. Investigation of prevalence of dental anomalies by using digital panoramic radiographs. Folia Morphol (Warsz). 2018;77:323-328.

  14. Herrera-Atoche JR, Agüayo-De-Pau MD, Escoffié-Ramírez M, Aguilar-Ayala FJ, Carrillo-Ávila BA, Rejón-Peraza ME. Impacted maxillary canine prevalence and its association with other dental anomalies in a Mexican population. Int J Dent. 2017;2017:7326061.

  15. Goncalves-Filho AJ, Moda LB, Oliveira RP, Ribeiro AL, Pinheiro JJ, Alver-Junior SR. Prevalence of dental anomalies on panoramic radiographs in a population of the state of Pará, Brazil. Indian J Dent Res. 2014; 25:648-652.

  16. Database of Single Nucleotide Polymorphisms (dbSNP). EE. UU.: National Center for Biotechnology Information/National Library of Medicine; 2016.

  17. Lau EC, Mohandas TK, Shapiro LJ, Slavkin HC, Snead ML. Human and mouse amelogenin gene loci are on the sex chromosomes. Genomics. 1989;4:162-168.

  18. Sasaki S, Shimokawa H. The amelogenina gene. Int J Dev Biol. 1995;39:127-133.

  19. Sire JY, Delgado S, Fromentin D, Girondot M. Amelogenin: lessons from evolution. Arch Oral Biol. 2005;50:205-212.

  20. Kawasaki K, Weiss KM. SCPP gene evolution and the dental mineralization continuum. J Dent Res. 2008;87:520-531.

  21. Kawasaki K. The SCPP gene repertoire in bony vertebrates and graded differences in mineralized tissues. Dev Genes Evol. 2009;219: 147-157.

  22. Iwase M, Kaneko S, Kim H, Satta Y, Takahata N. Evolutionary history of sex-linked mammalian amelogenin genes. Cells Tissues Organs. 2007;186:49-59.

  23. Prakash SK, Gibson CW, Wright JT, Boyd C, Cormier T, Sierra R, et al. Tooth enamel defects in mice with a deletion at the Arhgap6/AmelX locus. Calcif Tissue Int. 2005;77:23-29.

  24. Hu JC, Chan HC, Simmer SG, Seymen F, Richardson AS, Hu Y, et al. Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. PLoS One. 2012;7:e52052.

  25. Cho ES, Kim KJ, Lee KE, Lee EJ, Yun CY, Lee MJ, et al. Alteration of conserved alternative splicing in AMELX causes enamel defects. J Dent Res. 2014;93:980-987.

  26. Takagi T, Suzuki M, Baba T, Minegishi K, Sasaki S. Complete amino acid sequence of amelogenina in developing bovine enamel. Biochem Biophys Res Commun. 1984;121 592-597.

  27. Fukuda T, Sanui T, Toyoda K, Tanaka U, Taketomi T, Uchiumi T, et al. Identification of novel amelogenin-binding proteins by proteomics analysis. PLoS One. 2013;8:e78129.

  28. Kim YJ, Kim YJ, Kang J, Shin TJ, Hyun HK, Lee SH, et al. A novel AMELX mutation causes hypoplastic amelogenesis imperfecta. Arch Oral Biol. 2017;76:61-65.

  29. Richard B, Delgado S, Gorry P, Sire JY. A study of polymorphism in human AMELX. Arch Oral Biol. 2007;52:1026-1031.

  30. Salido EC, Yen PH, Koprivnikar K. Yu LC, Shapiro LJ. The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes. Am J Hum Genet. 1992;50:303-316.

  31. Jobling MA, Lo IC, Turner DJ, Bowden GR, Lee AC, Xue Y, et al. Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing amelogenin Y. Hum Mol Genet. 2007;16:307-316.

  32. Bartlett JD. Dental enamel development: proteinases and their enamel matrix substrates. ISRN Dent. 2013;684607.

  33. Pugach MK, Suggs C, Li Y, Wright JT, Kulkarni AB, Bartlett JD, et al. M180 amelogenin processed by MMP20 is sufficient for decussating murine enamel. J Dent Res. 2013;92:1118-1122.

  34. Rauth RJ, Potter KS, Ngan AY, Saad DM, Mehr R, Luong VQ, et al. Dental enamel: genes define biomechanics. J Calif Dent Assoc. 2009;37:863-868.

  35. Delak K, Harcup C, Lakshminarayanan R, Sun Z, Fan Y, Moradian-Oldak J, et al. The tooth enamel protein, porcine amelogenin, is an intrinsically disordered protein with an extended molecular configuration in the monomeric form. Biochemistry. 2007;48:2272-2281.

  36. Seymen F, Park JC, Lee KE, Lee HK, Lee DS, Koruyucu M, et al. Novel MMP20 and KLK4 mutations in amelogenesis imperfecta. J Dent Res. 2015;94:1063-1069.

  37. Guo J, Lyaruu DM, Takano Y, Gibson CW, DenBesten PK, Bronckers AL. Amelogenins as potential buffers during secretory-stage amelogenesis. J Dent Res. 2015;94:412-420.

  38. Yan Q, Zhang Y, Li W, DenBesten PK. Micromolar fluoride alters ameloblast lineage cells in vitro. J Dent Res. 2007;86:336-340.

  39. Jacques J, Hotton D, De-La-Dure-Molla M, Petit S, Asselin A, Kulkarni AB, et al. Tracking endogenous amelogenin and ameloblastin in vivo. PLoS One. 2014;9:e99626.

  40. Le MH, Warotayanont R, Stahl J, Den-Besten PK, Nakano Y. Amelogenin EXon4 forms a novel miRNA that directs ameloblast and osteoblast differentiation. J Dent Res. 2016;95:423-429.

  41. Fanjul-Fernández M, Folgueras AR, Cabrera S, López-Otín C. Matrix metalloproteinases: evolution, gene regulation and functional analysis in mouse models. Biochim Biophys Acta. 2010;1803:3-19.

  42. Kawasaki K, Suzuki T. Molecular evolution of matrix metalloproteinase 20. Eur J Oral Sci. 2011;119:247-253.

  43. Lu Y, Papagerakis P, Yamakoshi Y, Hu JC, Bartlett JD, Simmer JP. Functions of KLK4 and MMP-20 in dental enamel formation. Biol Chem. 2008;389:695-700.

  44. Lindemeyer RG, Gibson CW, Wright TJ. Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations. Pediatr Dent. 2010;32:56-60.

  45. Lee KE, Lee SK, Jung SE, Song SJ, Cho SH, Lee ZH, et al. A novel mutation in the AMELX gene and multiple crown resorptions. Eur J Oral Sci. 2011;119:324-328.

  46. Wright JT, Torain M, Long K, Seow K, Crawford P, Aldred MJ, et al. Amelogenesis imperfecta: genotype-phenotype studies in 71 families. Cells Tissues Organs. 2011;194:279-283.

  47. Kim JW, Simmer JP, Lin BP, Seymen F, Bartlett JD, Hu JC. Mutational analysis of candidate genes in 24 amelogenesis imperfecta families. Eur J Oral Sci. 2006;114:3-12.

  48. Bartlett JD, Simmer JP. Kallikrein-related peptidase-4 (KLK4): role in enamel formation and revelations from ablated mice. Front Physiol. 2014;5 240.

  49. Barron MJ, Brookes SJ, Kirkham J, Shore RC, Hunt C, Mironov A, et al. A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta. Hum Mol Genet. 2010;19:1230-1247.




2020     |     www.medigraphic.com