Here we present the abstract from a recently published article on a Rett-like encephalopathy case study, with the participation of the scientific team of the Hospital Sant Joan de Déu.
Posts with tag 'Rett syndrome'
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 […]
Rett Syndrome meeting in Santander in July ’17
The International University Menéndez y Pelayo organizes in Santander from 10 to 12 July 2017 a course on the latest developments in the research on the Rett Syndrome. “Rett syndrome, current situation and trends in research” The aim of this meeting on the Rett Syndrome is to exchange knowledge about this pathology, bringing together the […]
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 […]
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 […]