title: [RNA pathologies in neurological disorders].
abstract: 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 approximately 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.
authors.affiliation: Division of Neurogenetics and Bioinformatics, Center for Neurological Diseases and Cancer, Nagoya University Graduate School of Medicine.
authors.forename: Kinji
authors.initials: K
authors.lastname: Ohno
mesh_terms: D006801:Humans; D009422:Nervous System Diseases / Q000235:genetics*; D012313:RNA / Q000502:physiology*; D012326:RNA Splicing / Q000502:physiology
chemical_list: D012313:RNA