FXS (Fragile X syndrome) is the most common genetically inherited form of cognitive impairment. The predominant cause of the syndrome is the loss of a single protein, FMRP (Fragile X mental retardation protein). Many of the cognitive and behavioural features found in Fragile X individuals emerge during childhood and are associated with abnormal organization of cortical connections. However, although FMRP is expressed as early as embryogenesis, relatively little is known about its roles during development or how this may influence FXS phenotypes in adulthood. The present review focuses specifically on the evidence for the functions of FMRP during embryonic and early postnatal development. The current knowledge of the role of FMRP in FXS will be briefly summarized before addressing how alterations in the formation and refinement of neuronal connections and synaptic function that result from the loss of FMRP may in turn influence behaviours that are expressed during the first few postnatal weeks. I will then briefly highlight some outstanding questions about the developmental roles of FMRP and their possible relationship to symptoms found in adults with FXS.
Conference Article| March 22 2010
The developmental roles of FMRP
- Views Icon Views
- Share Icon Share
- Cite Icon Cite
Sally M. Till; The developmental roles of FMRP. Biochem Soc Trans 1 April 2010; 38 (2): 507–510. doi: https://doi.org/10.1042/BST0380507
Download citation file: