A novel approach to metabolic profiling in case models of MECP2-related disorders.

ABSTRACT: Genetic abnormalities of the MECP2 gene cause several conditions grouped under the umbrella term of MECP2-related disorders and characterized by a variety of phenotypes. We applied a functional approach to identify metabolic profiles in two patients with Rett syndrome (RTT) and one patient with MECP2 duplication syndrome (MRXSL). Such an approach is based on the Phenotype Mammalian Microarray (PM-M) technology, which is designed to assess the cellular production of energy in the presence of different compounds generating distinct metabolic environments. The findings in the three case models were compared versus 50 controls. Although the small number of samples prevented most results from reaching significant p-values when adjusted with the Benjamini-Hochberg correction, some interesting tr

SUBMITTER: Cooley Coleman JA 

PROVIDER: S-EPMC11825590 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature