Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
DOI: 10.1017/S1462399406010751; 21 April 2006
Barbara Bardoni, Laetitia Davidovic, Mounia Bensaid and Edouard W. Khandjian (2006) The fragile X syndrome: exploring its molecular basis and seeking a treatment.
Expert Rev. Mol. Med. Vol. 8, Issue 8, DOI: 10.1017/S1462399406010751

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

Barbara Bardoni, Laetitia Davidovic, Mounia Bensaid and Edouard W. Khandjian

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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.

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Figure 1. Structural comparison of members of the human fragile X protein family, and their known interactors.
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Figure 2. Proposed model for mRNA repression and transport in neurons.
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Table 1. FMRP protein partners in mammalian cells.
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