Format

Send to

Choose Destination
Trends Genet. 2017 Oct;33(10):703-714. doi: 10.1016/j.tig.2017.07.008. Epub 2017 Aug 18.

Multifarious Functions of the Fragile X Mental Retardation Protein.

Author information

1
Department of Biological Sciences, Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37235, USA.
2
Department of Biological Sciences, Kennedy Center for Research on Human Development, Vanderbilt University, Nashville, TN 37235, USA. Electronic address: kendal.broadie@vanderbilt.edu.

Abstract

Fragile X syndrome (FXS), a heritable intellectual and autism spectrum disorder (ASD), results from the loss of Fragile X mental retardation protein (FMRP). This neurodevelopmental disease state exhibits neural circuit hyperconnectivity and hyperexcitability. Canonically, FMRP functions as an mRNA-binding translation suppressor, but recent findings have enormously expanded its proposed roles. Although connections between burgeoning FMRP functions remain unknown, recent advances have extended understanding of its involvement in RNA, channel, and protein binding that modulate calcium signaling, activity-dependent critical period development, and the excitation-inhibition (E/I) neural circuitry balance. In this review, we contextualize 3 years of FXS model research. Future directions extrapolated from recent advances focus on discovering links between FMRP roles to determine whether FMRP has a multitude of unrelated functions or whether combinatorial mechanisms can explain its multifaceted existence.

KEYWORDS:

Fragile X syndrome (FXS); activity-dependent critical period; autism spectrum disorder (ASD); synapse; translation regulation

PMID:
28826631
PMCID:
PMC5610095
DOI:
10.1016/j.tig.2017.07.008
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Elsevier Science Icon for PubMed Central
Loading ...
Support Center