Of men and mice: Modelling the Fragile X Syndrome
- 1Institute for Biochemistry, Emil-Fischer Centre, University of Erlangen-Nuremberg, Germany
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual disability in all human societies. Caused by the transcriptional silencing of a single gene, the fragile x mental retardation gene FMR1, FXS is characterised by a variety of symptoms, which range from mental disabilities to autism and epilepsy. More than 20 years ago, a first animal model was described, the Fmr1 knock-out mouse. Several other models have been developed since then, including conditional knock-out mice, knock-out rats, a zebrafish and a drosophila model. Using these model systems, various targets for potential pharmaceutical treatments have been identified and many treatments have been shown to be efficient in preclinical studies. However, all attempts to turn these findings into a therapy for patients have failed thus far. In this review, I will discuss underlying difficulties and address potential alternatives for our future research.
Keywords: Fragile X Syndrome, FMRP, mouse model, Microsatellite Instability, Behaviour and cognition, Autism Spectrum Disorders, network excitability
Received: 23 Nov 2017;
Accepted: 31 Jan 2018.
Edited by:Rolf Sprengel, Max Planck Institute for Medical Research (MPG), Germany
Reviewed by:Zhengping Jia, Hospital for Sick Children, Canada
Barbara Bardoni, UMR7275 Institut de pharmacologie moléculaire et cellulaire (IPMC), France
Maria V. Catania, Institute of Neurological Sciences, Italy
Copyright: © 2018 Dahlhaus. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Dr. Regina Dahlhaus, University of Erlangen-Nuremberg, Institute for Biochemistry, Emil-Fischer Centre, Erlangen, Germany, firstname.lastname@example.org