%A Kumar,Vijay %A Hasan,Gulam M. %A Hassan,Md. Imtaiyaz %D 2017 %J Frontiers in Neuroscience %C %F %G English %K C9orf72,C9-FTD/ALS,Hexanucleotide repeat expansions,RNA-Binding Proteins,Transcriptome,pathomechanisms %Q %R 10.3389/fnins.2017.00711 %W %L %M %P %7 %8 2017-December-15 %9 Review %+ Vijay Kumar,Centre for Interdisciplinary Research in Basic Sciences, Jamia Millia Islamia,India,vijay9595@st.jmi.ac.in %+ Md. Imtaiyaz Hassan,Centre for Interdisciplinary Research in Basic Sciences, Jamia Millia Islamia,India,mihassan@jmi.ac.in %# %! RNA toxicity in C9-FTD/ALS %* %< %T Unraveling the Role of RNA Mediated Toxicity of C9orf72 Repeats in C9-FTD/ALS %U https://www.frontiersin.org/articles/10.3389/fnins.2017.00711 %V 11 %0 JOURNAL ARTICLE %@ 1662-453X %X The most frequent genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is intronic hexanucleotide (G4C2) repeat expansions (HRE) in the C9orf72 gene. The non-exclusive pathogenic mechanisms by which C9orf72 repeat expansions contribute to these neurological disorders include loss of C9orf72 function and gain-of-function determined by toxic RNA molecules and dipeptides repeats protein toxicity. The expanded repeats are transcribed bidirectionally and forms RNA foci in the central nervous system, and sequester key RNA-binding proteins (RBPs) leading to impairment in RNA processing events. Many studies report widespread transcriptome changes in ALS carrying a C9orf72 repeat expansion. Here we review the contribution of RNA foci interaction with RBPs as well as transcriptome changes involved in the pathogenesis of C9orf72- associated FTD/ALS. These informations are essential to elucidate the pathology and therapeutic intervention of ALS and/or FTD.