Dysferlin Exon 32 Skipping in Patient Cells

Florian Barthelemy (1) , Sebastien Courrier (1) , Nicolas Lévy (1) , Martin Krahn (1) , Marc Bartoli (1)

1 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille

Dysferlinopathies are rare genetic diseases affecting muscles due to mutations in DYSF. Exon 32 of DYSF has been shown to be dispensable for dysferlin functions. Here we present a method to visualize the skipping of exon 32 at the RNA and protein levels using an antisense oligonucleotide on cells derived from a dysferlinopathy-affected patient.

Keywords: Exon skipping; Dysferlin; Therapies; Muscular dystrophies; RNA editing

Domains: Life Sciences [q-bio]; Life Sciences [q-bio]; Cellular Biology; Life Sciences [q-bio]; Cellular Biology; Subcellular Processes [q-bio.SC]

Florian Barthelemy, Sebastien Courrier, Nicolas Lévy, Martin Krahn, Marc Bartoli. Dysferlin Exon 32 Skipping in Patient Cells. Exon Skipping and Inclusion Therapies, 1828, pp.489-496, 2018, ⟨10.1007/978-1-4939-8651-4_31⟩. ⟨hal-02000829⟩