Mecanismos moleculares de la amelogénesis imperfecta. Una revisión de los genes ENAM, AMBN, FAM83H, MMP20 y KLK4
Nicolás Pescetto
Facultad de Odontología, Universidad de la República, Uruguay
https://orcid.org/0000-0002-6791-8911
Alberto Céspedes
Área de Patología Molecular Estomatológica, Facultad de Odontología, Universidad de la República, Uruguay
https://orcid.org/0000-0003-1872-9644
Ronell Bologna Molina
Área de Patología Molecular Estomatológica, Facultad de Odontología, Universidad de la República, Uruguay.
https://orcid.org/0000-0001-9755-4779
Vanesa Pereira Prado
Área de Patología Molecular Estomatológica, Facultad de Odontología, Universidad de la República, Uruguay
https://orcid.org/0000-0001-7747-6718
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Palabras clave

amelogénesis imperfecta
hipoplasia
esmalte

Cómo citar

Pescetto, N., Céspedes, A., Bologna Molina, R., & Pereira Prado, V. (2021). Mecanismos moleculares de la amelogénesis imperfecta. Una revisión de los genes ENAM, AMBN, FAM83H, MMP20 y KLK4. Odontoestomatología, 23(38). https://doi.org/10.22592/1688-9339-ode-23-38-e306
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Resumen

La amelogénesis imperfecta (AI) es un trastorno hereditario que afecta la estructura y apariencia clínica del esmalte dental. Hasta la fecha, se han asociado las mutaciones de 18 genes como la etiología de la AI no sindrómica. El objetivo de este trabajo es actualizar los conocimientos vigentes acerca de los genes ENAM, AMBN, FAM83H, MMP20 yKLK4causantes de los diferentes tipos de AI.
Metodología: Se realizó una búsqueda bibliográfica considerando artículos científicos desde el 2003 al 2021 sobre mutaciones en los genes mencionados en los siguientes portales: scielo, Pubmed/MEDLINE, Cochrane y Springer Link.
Resultados: 37 artículos cumplieron los criterios de inclusión y fueron utilizados para esta revisión.
Conclusiones: Dependiendo del gen implicado, las alteraciones del esmalte pueden mostrar una variedad de características. Los mecanismos biológicos que conducen a la enfermedad son múltiples y variados, sin embargo, muchos de ellos no están del todo claro aún,
por lo que se requerirá de más investigaciones para mejorar nuestra comprensión del tema.

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Citas

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