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Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2010, Número 5

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Rev Invest Clin 2010; 62 (5)


Las bases metabólicas y moleculares del síndrome de Cockayne

Flores-Alvarado LJ, Ramirez-Garcia SA, Núñez-Reveles NY

Idioma: Español
Referencias bibliográficas: 94
Paginas: 480-490
Archivo PDF: 121.42 Kb.


RESUMEN

Cockayne es un síndrome progeroide segmental que tiene un patrón de herencia autosómico recesivo, se caracteriza principalmente por retraso del crecimiento intrauterino, retraso del crecimiento postnatal severo, caquexia con enanismo, microcefalia, facies arrugada, sordera neurosensorial, cataratas, caries dental, arritmias cardiacas, hipertensión, aterosclerosis, micropene, proteinuria, insuficiencia renal, diversas alteraciones esqueléticas, fotosensibilidad cutánea, disminución del tejido graso subcutáneo, atrofia cerebral, demencia, calcificaciones de ganglios basales, ataxia y apraxia. Tiene un fenotipo complejo dado por la heterogeneidad genética. Son cinco los genes responsables de este síndrome: CSA, CSB, XPB, XPD y XPG, en los que se han encontrado diversas mutaciones. El efecto bioquímico de estas mutaciones incluye la producción de proteínas disfuncionales del sistema de reparación por daño oxidativo al ADN, del complejo de acoplado a la transcripción y del sistema de reparación por escisión de nucleótidos. Considerando la función que desempeñan estas proteínas y los efectos en el fenotipo clínico cuando son disfuncionales, sugerimos que estos genes podrían ser candidatos para analizar la predisposición a diferentes enfermedades crónicas degenerativas más comunes relacionadas con el estrés oxidativo y con el proceso de envejecimiento.


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