Rett syndrome from bench to bedside: recent advances

Yann Ehinger; Valerie Matagne; Laurent Villard; Jean-Christophe Roux

doi:10.12688/f1000research.14056.1

Rett syndrome from bench to bedside: recent advances

F1000Res. 2018 Mar 26:7:398. doi: 10.12688/f1000research.14056.1. eCollection 2018.

Authors

Yann Ehinger¹, Valerie Matagne¹, Laurent Villard¹, Jean-Christophe Roux¹

Affiliation

¹ Aix Marseille Univ, INSERM, MMG, 13385 Marseille, France.

Abstract

Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and transcriptional regulation. In this review, we report the latest advances on the molecular function of Mecp2 and the new animal and cellular models developed to better study Rett syndrome. Finally, we present the latest innovative therapeutic approaches, ranging from classical pharmacology to correct symptoms to more innovative approaches intended to cure the pathology.

Keywords: Mecp2; Rett syndrome; treatment.

Publication types

Review

Grants and funding

The authors are supported by INSERM, Aix Marseille University, and grants from the AFM-Téléthon (Strategic pole MNH Decrypt) and Association Française du Syndrome de Rett (AFSR).