Pathogenic RNAs in microsatellite expansion disease.
Neurosci Lett
; 466(2): 99-102, 2009 Dec 04.
Article
en En
| MEDLINE
| ID: mdl-19647781
ABSTRACT
The expansion of unstable microsatellites is the cause of a number of inherited neuromuscular and neurological disorders. While these expanded repeats can be located in either the coding or non-coding regions of genes, toxic RNA transcripts have been primarily implicated in the pathogenesis of non-coding expansion diseases. In this review, we briefly summarize studies which support this RNA-mediated toxicity model for several neurologic disorders and highlight how pathogenic RNAs might negatively impact nervous system functions. However, it is important to note that the distinction between coding versus non-coding regions has become muddled by recent observations that the transcribed portion of the genome or transcriptome is considerably larger than previously appreciated. Thus, we also explore the possibility that a combination of protein and RNA gain-of-function events underlie some microsatellite expansion diseases.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
ARN
/
Repeticiones de Microsatélite
/
Expansión de Repetición de Trinucleótido
/
Enfermedades Genéticas Congénitas
Tipo de estudio:
Etiology_studies
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Neurosci Lett
Año:
2009
Tipo del documento:
Article
País de afiliación:
Estados Unidos