Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.

ABSTRACT:

Background

Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in the methyl-CpG-binding protein 2 gene (MECP2). MeCP2 is a multi-functional protein involved in many cellular processes, but the mechanisms by which its dysfunction causes disease are not fully understood. The duplication of the MECP2 gene causes a distinct disorder called MECP2 duplication syndrome (MDS), highlighting the importance of tightly regulating its dosage for proper cellular function. Additionally, some patients with mutations in genes other than MECP2 exhibit phenotypic similarities with RTT, indicating that these genes may also play a role in similar cellular functions. The purpose of this study was to characterise the molecular alterations in patients with RTT in order to iden

SUBMITTER: Pascual-Alonso A 

PROVIDER: S-EPMC10503149 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature