臨床神経学

第48回日本神経学会総会

<教育講演9>
神経・筋疾患におけるRNA病態

大野 欽司

名古屋大学神経遺伝情報学〔〒466-8550 愛知県名古屋市昭和区鶴舞町65〕

RNA is not a simple intermediate between DNA and proteins. RNA is widely transcribed from a variety of genomic regions, and researchers are extensively exploring the functional roles and the regulations of non-coding RNAs and small RNAs including siRNAs and mRNAs. In addition, the human genome project disclosed that we humans carry as few as -22,000 genes. Humans employ tissue-specific and developmental stage-specific alternative splicing to generate a large variety of proteins in a specific cell at a specific developmental stage. Neurological disorders are not the exceptions that can escape from aberrations of the splicing machinery. A large variety of neurological disorders is causally associated with RNA pathologies, but this lecture was mostly focused on aberrant splicings due to pathological alterations of splicing cis- and trans-elements. The neurological diseases covered include congenital myasthenic syndromes, genetic forms of Parkinson's disease, spastic paraplegia, myotonic dystrophy types 1 and 2, sporadic Alzheimer's disease, facioscapulohumeral dystrophy, fragile X-associated tremor/ataxia syndrome, Rett syndrome, Prader-Willi syndrome, spinocerebellar atrophy type 8, and Waardenburg-Shah syndrome. Potential therapeutic modalities targeting RNA are addressed on congenital myasthenic syndromes, Duchenne muscular dystrophy, spinal muscular atrophy, and familial dysautonomia.

(臨床神経, 47:801−804, 2007)
key words:pre-mRNAスプライシング, スプライシング・シス因子, スプライシング・トランス因子, 既認可薬

(受付日:2007年5月16日)