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The fragile X syndrome: exploring its molecular basis and seeking a treatment

Published online by Cambridge University Press:  21 April 2006

Barbara Bardoni
Affiliation:
INSERM, UMR 6543, Faculté de Médecine, 28 Av. de Valombrose, Université de Nice, O6107 Nice, France.
Laetitia Davidovic
Affiliation:
Unité de Recherche en Génétique Humaine et Moléculaire, Pavillon St François d'Assise du CHUQ, and Faculté de Médecine, Université Laval, Québec, G1L 3L5Canada.
Mounia Bensaid
Affiliation:
CNRS, UMR 6543, Faculté de Médecine, 28 Av. de Valombrose, Université de Nice, O6107 Nice, France.
Edouard W. Khandjian
Affiliation:
Unité de Recherche en Génétique Humaine et Moléculaire, Pavillon St François d'Assise du CHUQ, and Faculté de Médecine, Université Laval, Québec, G1L 3L5Canada.
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Abstract

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Fragile X syndrome (FXS) – the leading cause of inherited mental retardation – is an X-linked disease caused by loss of expression of the FMR1 (fragile X mental retardation 1) gene. In addition to impairment of higher-cognitive functions, FXS patients show a variety of physical and other mental abnormalities. FMRP, the protein encoded by the FMR1 gene, is thought to play a key role in translation, trafficking and targeting of mRNA in neurons. To better understand FMRP's functions, the protein partners and mRNA targets that interact with FMRP have been sought. These and functional studies have revealed links with processes such as cytoskeleton remodelling via the RhoGTPase pathway and mRNA processing via the RNA interference pathway. In this review, we focus on recent insights into the function of FMRP and speculate on how the absence of FMRP might cause the clinical phenotypes seen in FXS patients. Finally, we explore potential therapies for FXS.

Type
Review Article
Copyright
Cambridge University Press 2006