Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario.

摘要: Abstract Intellectual disability (ID) is the most frequent cause of serious handicap in children and young adults interests 2–3% worldwide population, representing a problem from medical, social, economic points view. The causes are very heterogeneous. Genes involved ID have various functions altering different pathways important neuronal function. Regulation mRNA metabolism particularly neurons for synaptic structure Here, we review due to alteration metabolism. Functional absence some RNA-binding proteins—namely, FMRP, FMR2P, PQBP1, UFP3B, VCX-A—causes forms ID. These proteins steps RNA and, even if detailed analysis their targets has been performed so far only it appears clear that they modulate aspects (translation, stability, transport, sublocalization) subset RNAs coding proteins, whose function must be relevant neurons. Two other DYRK1A CDKL5, Down syndrome Rett syndrome, respectively, shown an impact on splicing efficiency specific mRNAs. Both kinases effect indirect. Interestingly, both localized nuclear speckles, domains where factors assembled, stocked, recycled influence biogenesis and/or organization.