New insights into the molecular pathophysiology of fragile X syndrome and therapeutic perspectives from the animal model.
The International Journal of Biochemistry & Cell Biology. 2014-08-01; 53: 121-126
DOI: 10.1016/j.biocel.2014.05.004
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1. Int J Biochem Cell Biol. 2014 Aug;53:121-6. doi: 10.1016/j.biocel.2014.05.004.
Epub 2014 May 14.
New insights into the molecular pathophysiology of fragile X syndrome and
therapeutic perspectives from the animal model.
Busquets-Garcia A(1), Maldonado R(1), Ozaita A(2).
Author information:
(1)Departament de Ciències Experimentals i de la Salut. Universitat Pompeu Fabra,
08003 Barcelona, Spain.
(2)Departament de Ciències Experimentals i de la Salut. Universitat Pompeu Fabra,
08003 Barcelona, Spain. Electronic address: .
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.
Copyright © 2014 Elsevier Ltd. All rights reserved.
DOI: 10.1016/j.biocel.2014.05.004
PMID: 24831882 [Indexed for MEDLINE]