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New therapeutic targets for myotonic dystrophy: analysis of microRNAs in two animal models of the disease

15th National Research Competition in Life and Earth Sciences

Rare diseases

Senior Researcher : Rubén Darío Artero Allepuz

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Research Centre or Institution : Facultad de Biología. Universidad de Valencia

Abstract

Myotonic dystrophy is a disease caused by CTG trinucleotide expansions in a non-coding region of the DMPK gene. Various mechanisms have been described by which these expansions alter gene expression. This project aims to explore an additional mechanism: that expansions alter the expression of specific regulatory RNAs. For this analysis disease models in Drosophila melanogaster and in mice will be used using mass sequencing, PCR arrays and bioinformatics techniques. The mechanisms leading to differential expression will also be studied as well as their consequences and functional targets and the changes in their expression will be reversed to assess their possible use as a therapeutic target.

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