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>Revistas >Gaceta Médica de México >Año 2009, No. 4


Magaña JJ, Leyva-García N, Cisneros B
Patogénesis de la distrofia miotónica tipo 1
Gac Med Mex 2009; 145 (4)

Idioma: Español
Referencias bibliográficas: 73
Paginas: 331-337
Archivo PDF: 204.98 Kb.


Texto completo




RESUMEN

La distrofia miotónica tipo 1 (DM1) es la forma más común de distrofia muscular en el adulto, presenta una incidencia mundial de 1/8000. La DM1 tiene un patrón de herencia autosómico dominante, caracterizado por un cuadro clínico multisistémico que afecta principalmente el músculo esquelético, el corazón y los sistemas nervioso y endocrino. La mutación causante de la DM1 se localiza en la región 3’ no traducida del gen DMPK y consiste en un incremento del número de repetidos del triplete CTG; los individuos normales presentan de cinco a 37 repeticiones de este trinucleótido, mientras que los enfermos poseen más de 50 y hasta 4000 unidades repetidas del triplete CTG. La presente revisión ofrece una descripción detallada de los hallazgos científicos que han llevado a definir las bases moleculares de la DM1 en el músculo y cerebro. Actualmente se sabe que el transcrito mutante del gen DMPK se acumula en el núcleo de las células musculares y nerviosas en donde se une de manera aberrante con diversas proteínas nucleares, como los reguladores del procesamiento alternativo de transcritos y factores de transcripción, formando agregados nucleares visibles mediante técnicas de inmunofluorescencia. Este evento afecta de manera indirecta la expresión de genes implicados con la diferenciación muscular y nerviosa, lo que podría explicar la sintomatología tan diversa de la enfermedad. En la parte final de la revisión se detallan los principales hallazgos científicos encaminados al desarrollo de una terapia génica para la DM1.


Palabras clave: Distrofia miotónica, repetidos trinucleótidos, mecanismos moleculares, DMPK, ARNm.


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>Revistas >Gaceta Médica de México >Año2009, No. 4
 

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