EIF4E is a eukaryotic translation initiation factor. It is involved in several processes including splicing, RNA nuclear export, and mRNA stability. It can exist in free form or as part of the multiprotein complex EIF4F. EIF4E is the rate limiting component of the translationa apparatus and plays a part in the binding of mRNA and the ribosome during protein synthesis. It directs ribosomes to the mRNA 5' cap in toder to initiate protein synthesis. In the brain, EIF4E is used in regulating lasting alterations in synaptic stenght or plasticity, and long term potentiation. Genome wide linkage studies with autism patients have shown that autism is linked to regions containing EIF4E on chromosome 4q. A study with a boy with autism has a chromosomal translocation and two non related families with a heterozygous C insertion in the EIF4E promotor implicated EIF4E to possibly participate in the pathogenesis of autism. The two families with a C insertion in the EIF4E promoter had increased amounts of EIF4E promoter activity.
EIF4E is regulated by PTEN/PI3K and tuberous sclerosis pathways. mTOR is an upstream regulator of EIF4E. Thus EIF4E works in concert with many other genes that have been implicated in ASD.1
1. Neves-Pereira M. et. al. Deregulation of EIF4E: a novel mechanism for autism.J Med Genet. 2009 Nov;46(11):759-65. PMID 19556253