RNA biology of disease-associated microsatellite repeat expansions.
Acta Neuropathol Commun
; 5(1): 63, 2017 08 29.
Article
en En
| MEDLINE
| ID: mdl-28851463
ABSTRACT
Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome and have important roles in genome evolution and function. However, the expansion of microsatellites is associated with over two dozen neurological diseases. A common denominator among the majority of these disorders is the expression of expanded tandem repeat-containing RNA, referred to as xtrRNA in this review, which can mediate molecular disease pathology in multiple ways. This review focuses on the potential impact that simple tandem repeat expansions can have on the biology and metabolism of RNA that contain them and underscores important gaps in understanding. Merging the molecular biology of repeat expansion disorders with the current understanding of RNA biology, including splicing, transcription, transport, turnover and translation, will help clarify mechanisms of disease and improve therapeutic development.
Palabras clave
Amyotrophic lateral sclerosis; C9FTD/ALS; C9ORF72; DM1; DM2; Export; FXTAS; Fragile X; HD; Huntington's disease; Mechanism; Microsatellite; Myotonic dystrophy; RNA; Repeat expansion disease; SBMA; SCA; Spinocerebellar ataxia; Splicing; Tandem repeats; Therapeutics; Transcription; Translation; Transport; Turnover
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
ARN
/
Repeticiones de Microsatélite
/
Expansión de las Repeticiones de ADN
Tipo de estudio:
Risk_factors_studies
Límite:
Animals
/
Humans
Idioma:
En
Año:
2017
Tipo del documento:
Article