Potential pathogenic mechanisms underlying Fragile X Tremor Ataxia Syndrome: RAN translation and/or RNA gain-of-function?
| Autor: | Chantal Sellier, Renate K. Hukema, Rob Willemsen, Manon Boivin |
|---|---|
| Přispěvatelé: | Centre for Integrative Biology - CBI (Inserm U964 - CNRS UMR7104 - IGBMC), Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Dieterle, Stéphane, Clinical Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
MESH: Ataxia [SDV]Life Sciences [q-bio] MESH: Neurons MESH: Tremor Fragile X Mental Retardation Protein 0302 clinical medicine Tremor MESH: Trinucleotide Repeat Expansion MESH: Animals Genetics (clinical) Neurons Fragile X Tremor/Ataxia Syndrome Brain General Medicine 3. Good health Antisense RNA [SDV] Life Sciences [q-bio] Gain of Function Mutation Intention tremor medicine.symptom MESH: Fragile X Syndrome congenital hereditary and neonatal diseases and abnormalities Ataxia MESH: Ubiquitin Biology MESH: Fragile X Mental Retardation Protein 03 medical and health sciences MESH: Brain Atrophy RAN translation Genetics medicine Animals Humans MESH: Gain of Function Mutation MESH: Humans Ubiquitin RNA medicine.disease FMR1 nervous system diseases MESH: Astrocytes Disease Models Animal 030104 developmental biology Astrocytes Fragile X Syndrome Gait Ataxia FXTAS MESH: Disease Models Animal Trinucleotide Repeat Expansion RNA gain-of-function Neuroscience Microsatellite expansion 030217 neurology & neurosurgery |
| Zdroj: | European Journal of Medical Genetics European Journal of Medical Genetics, 2018, 61 (11), pp.674-679. ⟨10.1016/j.ejmg.2017.11.001⟩ European Journal of Medical Genetics, 61(11), 674-679. Elsevier Masson European Journal of Medical Genetics, Elsevier, 2018, 61 (11), pp.674-679. ⟨10.1016/j.ejmg.2017.11.001⟩ |
| ISSN: | 1769-7212 |
| Popis: | International audience; 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect