Neuronal function and dysfunction of CYFIP2: From actin dynamics to early infantile epileptic encephalopathy

Yinhua Zhang, Yeunkum Lee, Kihoon Han

Research output: Contribution to journalReview articlepeer-review

23 Citations (Scopus)

Abstract

The cytoplasmic FMR1-interacting protein family (CYFIP1 and CYFIP2) are evolutionarily conserved proteins originally identified as binding partners of the fragile X mental retardation protein (FMRP), a messenger RNA (mRNA)-binding protein whose loss causes the fragile X syndrome. Moreover, CYFIP is a key component of the heteropentameric WAVE regulatory complex (WRC), a critical regulator of neuronal actin dynamics. Therefore, CYFIP may play key roles in regulating both mRNA translation and actin polymerization, which are critically involved in proper neuronal development and function. Nevertheless, compared to CYFIP1, neuronal function and dysfunction of CYFIP2 remain largely unknown, possibly due to the relatively less well established association between CYFIP2 and brain disorders. Despite high amino acid sequence homology between CYFIP1 and CYFIP2, several in vitro and animal model studies have suggested that CYFIP2 has some unique neuronal functions distinct from those of CYFIP1. Furthermore, recent whole-exome sequencing studies identified de novo hot spot variants of CYFIP2 in patients with early infantile epileptic encephalopathy (EIEE), clearly implicating CYFIP2 dysfunction in neurological disorders. In this review, we highlight these recent investigations into the neuronal function and dysfunction of CYFIP2, and also discuss several key questions remaining about this intriguing neuronal protein.

Original languageEnglish
Pages (from-to)304-311
Number of pages8
JournalBMB reports
Volume52
Issue number5
DOIs
Publication statusPublished - 2019

Bibliographical note

Funding Information:
This work was supported by the National Research Foundation of Korea (NRF) grant funded by the Korea government Ministry of Science and ICT (NRF-2018R1C1B6001235, NRF-2018 R1A6A3A11040508), and by the Brain Research Program through the NRF funded by the Korea government Ministry of Science and ICT (NRF-2015M3C7A1028790, NRF-2018M3 C7A1024603).

Publisher Copyright:
© 2019 by the The Korean Society for Biochemistry and Molecular Biology.

Keywords

  • Actin polymerization
  • Cytoplasmic FMR1-interacting protein 2 (CYFIP2)
  • Early infantile epileptic encephalopathy (EIEE)
  • Neuronal synapse
  • WAVE regulatory complex (WRC)

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology

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