Rinsho Shinkeigaku (Clinical Neurology)

Symposium 2

Myotonic dystrophy

Shoichi Ishiura, Ph.D.1), Kosuke Oana, M.S.1) and Michinori Koebis, M.S.1)

1)Graduate School of Arts and Sciences, The University of Tokyo

No effective treatment was available for myotonic dystrophy, even in animal model. We have established a new antisense oligonucleotide delivery to skeletal muscle of mice with bubble liposomes, and led to increased expression of chloride channel (CLCN1) protein and the amelioration of myotonia. In other experiments, we also identified small molecule compounds that correct aberrant splicing of Clcn1 gene. Manumycin A corrected aberrant splicing of Clcn1 in mouse model.
Full Text of this Article in Japanese PDF (752K)

(CLINICA NEUROL, 53: 1109|1111, 2013)
key words: myotonic dystrophy, splicing, chloride channel, myotonia, therapy

(Received: 30-May-13)