Skip to Main content Skip to Navigation
Journal articles

Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?

Abstract : Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disease caused by an expansion of 55-200 CGG repeats located in the FMR1 gene. The main clinical and neuropathological features of FXTAS are progressive intention tremor and gait ataxia associated with brain atrophy, neuronal cell loss and presence of ubiquitin-positive intranuclear inclusions in both neurons and astrocytes. At the molecular level, FXTAS is characterized by increased expression of FMR1 sense and antisense RNA containing expanded CGG or GGC repeats, respectively. Here, we discuss the putative molecular mechanisms underlying FXTAS and notably recent reports that expanded CGG and GGC repeats may be pathogenic through RAN translation into toxic proteins.
Document type :
Journal articles
Complete list of metadata

https://www.hal.inserm.fr/inserm-03376146
Contributor : Stéphane Dieterle Connect in order to contact the contributor
Submitted on : Wednesday, October 13, 2021 - 12:17:12 PM
Last modification on : Wednesday, November 3, 2021 - 7:56:23 AM

File

 Restricted access
To satisfy the distribution rights of the publisher, the document is embargoed until : jamais

Please log in to resquest access to the document

Identifiers

Collections

Citation

Manon Boivin, Rob Willemsen, Renate Hukema, Chantal Sellier. Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?. European Journal of Medical Genetics, Elsevier, 2018, 61 (11), pp.674-679. ⟨10.1016/j.ejmg.2017.11.001⟩. ⟨inserm-03376146⟩

Share

Metrics

Record views

15