6 posts found

Anti-inflammatory drugs can reverse synaptic defects

Inflammation modifies risk and/or severity of a variety of brain diseases through still elusive molecular mechanisms. Tomasoni et al. (open access article available at https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5370184/) show that hyperactivation of the interleukin 1 pathway, through either removal of the interleukin 1 receptor 8 (IL-1R8,) or activation of IL-1R, leads to up-regulation of the mTOR pathway and […]

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Central Serotonin Receptor 7 constitutes a potential therapeutic target for Rett Syndrome

Rett syndrome is a neurodevelopment disorder affecting around 1 out of 10,000 girls, usually due to de novo mutations in the X-located gene MECP2. It is a complex disorder, both clinically and at a molecular level, and is typically characterized by a neurodevelopment regression starting at age 6 to 18 months after a normal early […]

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The MECP2 gene and its role in the Rett syndrome

The Rett syndrome (RTT) is a neurological disorder caused by mutations which occur in the gene MECP2 (methyl-CpG-binding protein 2). This gene is located on the X chromosome, and the RTT affects only females – 1 every 10,000 – because the mutation of MECP2 in males is not viable. However, some isolated cases of boys […]

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