SGCE isoform characterization and expression in human brain: implications for Myoclonus-Dystonia pathogenesis?

Katja Ritz (1) , Barbera van Schaik (1) , Marja Jakobs (1) , Antoine van Kampen (1) , Eleonora Aronica (1) , Marina Tijssen (1) , Frank Baas (1)

1 Genome Analysis

Myoclonus-Dystonia (M-D) is a neurological movement disorder with involuntary jerky and dystonic movements as major symptoms. About 50% of M-D patients have a mutation in epsilon-sarcoglycan (SGCE), a maternally imprinted gene that is widely expressed. Since little is known about SGCE function one can only speculate about the pathomechanisms of the exclusively neurological phenotype in M-D. We characterized different SGCE isoforms in the human brain using ultra deep sequencing. We show that a major brain-specific isoform is differentially expressed in the human brain with a notably high expression in the cerebellum, namely in the Purkinje cells and neurons of the dentate nucleus. Its expression was low in the globus pallidus and moderate to low in caudate nucleus, putamen and substantia nigra. Our data is compatible with a model in which dysfunction of the cerebellum is involved in the pathogenesis of M-D.

Mots clés: Myoclonus-Dystonia; SGCE; alternative splicing

Katja Ritz, Barbera van Schaik, Marja Jakobs, Antoine van Kampen, Eleonora Aronica, et al.. SGCE isoform characterization and expression in human brain: implications for Myoclonus-Dystonia pathogenesis?. European Journal of Human Genetics, 2010, ⟨10.1038/ejhg.2010.206⟩. ⟨hal-00600445⟩