Rinsho Shinkeigaku (Clinical Neurology)

Symposium 4

Epigenome: what we learned from Rett syndrome, a neurological disease caused by mutation of a methyl-CpG binding protein

Takeo Kubota, M.D.1)

1)Department of Epigenetic Medicine, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi

Epigenome is defined as DNA and histone modification-dependent gene regulation system. Abnormalities in this system are known to cause various neuro-developmental diseases. We recently reported that neurological symptoms of Rett syndrome, which is an autistic disorder caused by mutations in methyl-CpG binding protein 2 (MeCP2), was associated with failure of epigenomic gene regulation in neuronal cells, and that clinical differences in the identical twins with Rett syndrome in the differences in DNA methylation in neuronal genes, but not caused by DNA sequence differences. Since central nervus system requires precise gene regulation, neurological diseases including Alzheimer and Parkinson diseases may be caused by acquired DNA modification (epigenomic) changes that results in aberrant gene regulation as well as DNA sequence changes congenitally occurred (mutation).
Full Text of this Article in Japanese PDF (942K)

(CLINICA NEUROL, 53: 1339|1341, 2013)
key words: epigenome, Rett syndrome, genome modification, DNA methylation, acquired

(Received: 1-Jun-13)