TY - JOUR
T1 - SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis?
AU - Ritz, Katja
AU - van Schaik, Barbera Dc
AU - Jakobs, Marja E.
AU - van Kampen, Antoine H.
AU - Aronica, Eleonora
AU - Tijssen, Marina A.
AU - Baas, Frank
PY - 2011
Y1 - 2011
N2 - 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 e-sarcoglycan (SGCE), a maternally imprinted gene that is widely expressed. As 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 are compatible with a model in which dysfunction of the cerebellum is involved in the pathogenesis of M-D. European Journal of Human Genetics (2011) 19, 438-444; doi:10.1038/ejhg.2010.206; published online 15 December 2010
AB - 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 e-sarcoglycan (SGCE), a maternally imprinted gene that is widely expressed. As 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 are compatible with a model in which dysfunction of the cerebellum is involved in the pathogenesis of M-D. European Journal of Human Genetics (2011) 19, 438-444; doi:10.1038/ejhg.2010.206; published online 15 December 2010
U2 - https://doi.org/10.1038/ejhg.2010.206
DO - https://doi.org/10.1038/ejhg.2010.206
M3 - Article
C2 - 21157498
SN - 1018-4813
VL - 19
SP - 438
EP - 444
JO - European journal of human genetics
JF - European journal of human genetics
IS - 4
ER -