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2013, Número 3

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Rev Med Inst Mex Seguro Soc 2013; 51 (3)


Implicaciones en la atención primaria en salud de la genética y genómica en la diabetes mellitus tipo 2

Sergio Alberto Ramirez-Garcia, Carlos E Cabrera-Pivaral, Luis Huacuja-Ruiz, Luis Javier Flores-Alvarado, Guillermo Pérez-García, José Luis González-Rico, Alma López-Velázquez, Luz Rosalba Topete-González, Roberto Carlos Rosales-Gómez, Gerardo Candelario-Mejía, Nemesio Villa-Ruano

Idioma: Español
Referencias bibliográficas: 110
Paginas: 6-26
Archivo PDF: 677.38 Kb.


RESUMEN

La diabetes mellitus tipo 2 es una enfermedad multifactorial y un problema de salud mundial. De ahí que en el primer nivel de atención en salud se deben manejar los abordajes de la genética médica y genómica para disminuir su incidencia. El propósito de este artículo es presentar perspectivas analizadas por nuestro grupo en dos áreas de la genética, así como su aplicación clínica. Se hace hincapié en la coexistencia de varias formas genéticas clínicamente detectables en el paciente diabético, la heredabilidad perdida relacionada con baja penetrancia y fenómenos epigenómicos. Se discute el efecto de la variación genética relacionada con la resistencia a la insulina, la disfunción de las células beta, el eje incretínico, otros puntos de interés como las hipótesis del genotipo ahorrador, la patología conformacional, comidas genéticamente desconocidas, fenocopias como el hipercortisolismo clínicamente silente y la fi tofarmacología molecular en el manejo clínico. Finalmente, se muestran resultados de estudios genéticos en población mexicana y nuevos hallazgos de importancia en la clínica, como la participación de la melatonina y el efecto de las variaciones en el número de copias en una región genómica.


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