Genetic engineering of dystroglycan in animal models of muscular dystrophy

Francesca Sciandra, Maria Giulia Bigotti, Bruno Giardina, Manuela Bozzi, Andrea Brancaccio

Research output: Contribution to journalArticle (Academic Journal)peer-review

4 Citations (Scopus)
406 Downloads (Pure)

Abstract

In skeletal muscle, dystroglycan (DG) is the central component of the dystrophin-glycoprotein complex (DGC), a multimeric protein complex that ensures a strong mechanical link between the extracellular matrix and the cytoskeleton. Several muscular dystrophies arise from mutations hitting most of the components of the DGC. Mutations within the DG gene (DAG1) have been recently associated with two forms of muscular dystrophy, one displaying a milder and one a more severe phenotype. This review focuses specifically on the animal (murine and others) model systems that have been developed with the aim of directly engineering DAG1 in order to study the DG function in skeletal muscle as well as in other tissues. In the last years, conditional animal models overcoming the embryonic lethality of the DG knock-out in mouse have been generated and helped clarifying the crucial role of DG in skeletal muscle, while an increasing number of studies on knock-in mice are aimed at understanding the contribution of single amino acids to the stability of DG and to the possible development of muscular dystrophy.
Original languageEnglish
Article number635792
Number of pages10
JournalBioMed Research International
Volume2015
DOIs
Publication statusPublished - 24 Aug 2015

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