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Variaciones de número de copias: marcadores y predictores de diabetes tipo 2
Resumen
La diabetes tipo 2 (DT2) es una enfermedad caracterizada por una deficiencia en la producción o acción de la insulina; es el resultado de la interacción principalmente de factores ambientales, el estilo de vida, así como factores genéticos. Se considera como uno de los problemas de salud más importantes en el mundo debido a que afecta seriamente la independencia, el bienestar psicológico y en general la calidad de vida. Recientemente se ha demostrado que las variaciones en el número de copias de ADN (CNV, del inglés copy number variations) se asocian con diferentes enfermedades, entre ellas la obesidad y DT2. Las CNV se presentan en el 9 al 18 % del genoma y pueden modificar los niveles de expresión de mRNA y proteína codificados por genes cercanos a su ubicación. Poco se conoce acerca de su contribución en la patogénesis de las enfermedades metabólicas, por lo cual es necesario caracterizar estas variaciones para que potencialmente sean utilizadas como biomarcadores genéticos de riesgo de DT2.
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