Search results for "Muscleblind"
showing 3 items of 13 documents
Descubrimiento y caracterización de la estefenantrina como fármaco para la Distrofia Miotónica Tipo 1
2015
La Distrofia Miotónica tipo 1 (DM1) es una enfermedad autosómica dominante cuyos principales síntomas incluyen miotonía (incapacidad para relajar el músculo tras una contracción voluntaria), degeneración muscular, cataratas, diabetes, arritmias cardiacas y déficit cognitivo entre otros. La causa genética de la enfermedad radica en la expansión del trinucleótido CTG en el extremo 3’ no traducido del gen proteina kinasa de la distrofia miotónica (DMPK). La expansión de este trinucleótido provoca la ganancia de función tóxica del RNA al transcribirse la región expandida. El RNA portador de las expansiones tóxicas de CTG se pliega sobre sí mismo formando una horquilla de doble cadena que queda …
miR-7 Restores Phenotypes in Myotonic Dystrophy Muscle Cells by Repressing Hyperactivated Autophagy
2019
International audience; Unstable CTG expansions in the 3' UTR of the DMPK gene are responsible for myotonic dystrophy type 1 (DM1) condition. Muscle dysfunction is one of the main contributors to DM1 mortality and morbidity. Pathways by which mutant DMPK trigger muscle defects, however, are not fully understood. We previously reported that miR-7 was downregulated in a DM1 Drosophila model and in biopsies from patients. Here, using DM1 and normal muscle cells, we investigated whether miR-7 contributes to the muscle phenotype by studying the consequences of replenishing or blocking miR-7, respectively. Restoration of miR-7 with agomiR-7 was sufficient to rescue DM1 myoblast fusion defects and…
Modeling of Myotonic Dystrophy Cardiac Phenotypes in
2018
After respiratory distress, cardiac dysfunction is the second most common cause of fatality associated with the myotonic dystrophy (DM) disease. Despite the prevalance of heart failure in DM, physiopathological studies on heart symptoms have been relatively scarce because few murine models faithfully reproduce the cardiac disease. Consequently, only a small number of candidate compounds have been evaluated in this specific phenotype. To help cover this gap Drosophila combines the amenability of its invertebrate genetics with the possibility of quickly acquiring physiological parameters suitable for meaningful comparisons with vertebrate animal models and humans. Here we review available des…