CNS pathogenesis in myotonic dystrophy

Masayuki Nakamori

Department of Neurology, Osaka University Graduate School of Medicine

Myotonic dystrophy type 1 （DM1） is a multisystem genetic disorder affecting the muscle, heart, and CNS.　It is caused by toxic RNA transcripts with expanded CUG repeats.　However, the pathogenesis of CNS symptoms prevalent in patients with DM1 remains unelucidated, due to a limitation in studying a diverse mixture of different cell types in CNS.　Recent laser-capture microdissection-based studies revealed cell type-dependent genetic, epigenetic, and splicing abnormalities in DM1 CNS, indicating the significant potential of cell type-specific analysis in elucidating the CNS pathogenesis.

Address correspondence to Dr. Masayuki Nakamori, Department of Neurology, Osaka University Graduate School of Medicine（Yamadaoka 2-2, D-4, Suita, Osaka 565-0871, Japan）