RNA processing pathways in amyotrophic lateral sclerosis

• Published in: Neurogenetics Vol. 11; no. 3; pp. 275 - 290
• Main Authors: van Blitterswijk, Marka, Landers, John E.
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer-Verlag 01.07.2010; Springer; Springer Nature B.V
• Subjects: Amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis - genetics; Animals; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases; DNA-Binding Proteins - genetics; Fundamental and applied biological sciences. Psychology; Genes; Genetic Predisposition to Disease; Genetics of eukaryotes. Biological and molecular evolution; Histone Acetyltransferases - genetics; Human Genetics; Humans; Medical sciences; Mice; Molecular and cellular biology; Molecular Medicine; Nerve Tissue Proteins - genetics; Neurology; Neurosciences; Review Article; Ribonuclease, Pancreatic - genetics; Ribonucleic acid; RNA; RNA Helicases - genetics; RNA Processing, Post-Transcriptional; RNA Splicing; RNA-Binding Protein FUS - genetics; SMN Complex Proteins - genetics; Transcription, Genetic; Vertebrates: nervous system and sense organs; Amyotrophic lateral sclerosis; Mutation; Transcription; Splicing; RNA processing; Neurology; Nervous system diseases; RNA; Central nervous system disease; Genetics; Degenerative disease; Spinal cord disease
• ISSN: 1364-6745; 1364-6753
• DOI: 10.1007/s10048-010-0239-4

RNA processing is a tightly regulated, highly complex pathway which includes RNA transcription, pre-mRNA splicing, editing, transportation, translation, and degradation of RNA. Over the past few years, several RNA processing genes have been shown to be mutated or genetically associated with amyotrophic lateral sclerosis (ALS), including the RNA-binding proteins TDP-43 and FUS/TLS. These findings suggest that RNA processing may represent a common pathogenic mechanism involved in development of ALS. In this review, we will discuss six ALS-related, RNA processing genes including their discovery, function, and commonalities.