New insights into the molecular pathophysiology of fragile X syndrome and therapeutic perspectives from the animal model
Fragile X syndrome is the most common monogenetic form of intellectual disability and is a leading cause of autism. This syndrome is produced by the reduced transcription of the fragile X mental retardation (FMR1) gene, and it is characterized by a range of symptoms heterogeneously expressed in pati...
| Autores: | , , |
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| Tipo de recurso: | artículo |
| Estado: | Versión aceptada para publicación |
| Fecha de publicación: | 2014 |
| País: | España |
| Institución: | Universitat Pompeu Fabra |
| Repositorio: | Repositorio Digital de la UPF |
| OAI Identifier: | oai:repositori.upf.edu:10230/25645 |
| Acceso en línea: | http://hdl.handle.net/10230/25645 http://dx.doi.org/10.1016/j.biocel.2014.05.004 |
| Access Level: | acceso abierto |
| Palabra clave: | Autisme -- Aspectes genètics Discapacitats mentals Síndrome del cromosoma X fràgil Autism Fragile X syndrome mGluR5 Mammalian target of rapamycin (mTOR) Endocannabinoid system CB1 cannabinoid receptor Intellectual disability Anxiety Epilepsy Nociception |
| Sumario: | Fragile X syndrome is the most common monogenetic form of intellectual disability and is a leading cause of autism. This syndrome is produced by the reduced transcription of the fragile X mental retardation (FMR1) gene, and it is characterized by a range of symptoms heterogeneously expressed in patients such as cognitive impairment, seizure susceptibility, altered pain sensitivity and anxiety. The recent advances in the understanding of the pathophysiological mechanisms involved have opened novel potential therapeutic approaches identified in preclinical rodent models as a necessary preliminary step for the subsequent evaluation in patients. Among those possible therapeutic approaches, the modulation of the metabotropic glutamate receptor signaling or the GABA receptor signaling have focused most of the attention. New findings in the animal models open other possible therapeutic approaches such as the mammalian target of rapamycin signaling pathway or the endocannabinoid system. This review summarizes the emerging data recently obtained in preclinical models of fragile X syndrome supporting these new therapeutic perspectives. |
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