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• Vol.47 No.11
• CLINICA NEUROL, 47: 801−804, 2007
• Vol.47 No.11 contents

The 48th Annual Meeting of the Japanese Society of Neurology

RNA pathologies in neurological disorders

Kinji Ohno, M.D., Ph.D.

Division of Neurogenetics and Bioinformatics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine

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.

(CLINICA NEUROL, 47: 801−804, 2007)
key words: pre-mRNA splicing, splicing cis-elements, splicing trans-elements, Off-label application of pre-approved drugs

(Received: 16-May-07)