Regular ArticleGene Expression Profiling in Postmortem Rett Syndrome Brain: Differential Gene Expression and Patient Classification
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2022, European Journal of Cell BiologyCitation Excerpt :Gene ontology analysis of different clinically relevant biological samples and MeCP2 model systems suggest the involvement of many cellular pathways including immunoregulatory and inflammatory processes, DNA binding activity and transcription factor binding, heat shock protein folding, messenger RNA processing, central nervous system development, neurogenesis, and microtubule assembly, among other cellular processes (Ehrhart et al., 2020). Increases and decreases in gene expression have also been reported in the post-mortem brain tissues from RTT patients (Colantuoni et al., 2001), human MeCP2 mutant fibroblast clones (Traynor et al., 2002), patient T-lymphocytes (Delgado et al., 2006), and SH-SY5Y neuronal cells (Peddada et al., 2006). The global gene expression analyses have provided a starting point, but more research is required to pinpoint which genes are directly and transcriptionally regulated by MeCP2, which genes are controlled as a result of secondary effects of MECP2 mutations, and whether the detected changes at the transcript levels would translate into changes at the protein level.
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