title: RNA-mediated neurodegeneration in fragile X-associated tremor/ataxia syndrome.
abstract: Carriers of fragile X syndrome (FXS) have FMR1 alleles, called premutations, with a number of 5'-untranslated-CGG repeats somewhere between patients, who have over 200 repeats, and normal individuals, with fewer than 60 repeats. Fragile X-associated tremor/ataxia syndrome (FXTAS), a late-onset neurodegenerative disorder, has been recognized in older male fragile X premutation carriers, and FXTAS is uncoupled from the neurodevelopmental disorder, FXS. Several lines of evidence have led to the proposal of an RNA (fragile X premutation rCGG repeat)-mediated gain-of-function toxicity model for FXTAS, in which rCGG repeat-binding proteins (RBPs) could become functionally limited by their sequestration to lengthy rCGG repeats. In this review, we will discuss the recent progress towards understanding the molecular basis of RNA-mediated neurodegeneration in FXTAS. This article is part of a Special Issue entitled: RNA-Binding Proteins.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.
authors.forename: Yujing
authors.initials: Y
authors.lastname: Li
authors.forename: Peng
authors.initials: P
authors.lastname: Jin
mesh_terms: D000483:Alleles; D001259:Ataxia / Q000235:genetics / Q000473:pathology; D051860:Fragile X Messenger Ribonucleoprotein 1 / Q000235:genetics; D005600:Fragile X Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D009410:Nerve Degeneration / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology; D012313:RNA / Q000502:physiology*; D014202:Tremor / Q000235:genetics / Q000473:pathology; D018911:Trinucleotide Repeats / Q000235:genetics
chemical_list: D051860:Fragile X Messenger Ribonucleoprotein 1; D012313:RNA