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Treatment options for respiratory problems in Rett syndrome
Respiratory problems, such as irregular breathing and apnea during resting and/or sleeping, are a common feature in patients with Rett syndrome (RTT). Three studies here outlined describe three different approaches to these problems and present encouraging results. The first article describes the results obtained using a serotonin receptor agonist, whose commercial name is Sarizotan, in...
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Impairment of the macroautophagy: a possible hallmark of the Rett syndrome
The Rett syndrome (RTT) is a neurodevelopmental disorder that affects 1 out of 10,000 girls. They present a neurodevelopment disruption affecting language, cognition and motor function. The RTT is caused, in the 90 – 95% of the cases, by mutations of MECP2, a gene that controls the transcription of other genes.
A team of scientists...
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Rett syndrome: an over-50-years journey
In 1966, an Austrian neurologist named Andreas Rett first described more than 20 young female patients which shared similar characteristics, starting from the observation of identical stereotypic hand movements. In 1983, the Swedish pediatrician Bengt Hagberg gave for the first time the name of Rett syndrome (RTT) to the symptoms he detected in a...
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A gene therapy approach for the Rett Syndrome
The gene therapy is likely to become an important tool in the fight against pediatric rare diseases, especially those derived by the alteration of one single gene. This is the case of the Rett Syndrome (RTT), caused by the loss of function of MECP2, a gene involved in the control of the transcription of...
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STXBP1 protein as a therapeutic target for Epileptic Encephalopathy
The epileptic encephalopathies (EEs) are characterized by frequent seizures and cognitive and behavioral impairment. The presence of the mental handicap is a signal that the EEs origin during the neuronal development, so that, even if the seizure can be controlled by using available anti-epileptic drugs, the cognitive impairment cannot be stopped with the current...
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Genetic strategies to repair brain circuits with altered MECP2
The Rett syndrome (RTT) and the Autism Spectrum Disorder (ASD) are neurodevelopmental disorders which, although presenting different symptoms and evolution, are linked by a common factor: mutations in the same gene, called MECP2. But the answers on how and why the same gene could have a key role in the development of both diseases...
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The big challenge of the brain circuits
One of the most complicated and fascinating challenges for the neuroscientists is how to link the architecture, the wiring and the electric messages of the neuronal circuits to our behavior and emotions. To date, the desire of understanding this correspondence is simply unrealistic: the reason lies in numbers. 302: is the number of neurons that...
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D-Serine dietary supplement as a therapeutic strategy against Rett-like severe encephalopathy: a case study
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.
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New roles of microglia in brain pathophysiology
Microglia cells represent, depending on the species, from 5% to 20% of the glial cells in the adult brain. It is commonly accepted that microglia precursors originate in the yolk sac – as the tissue specific macrophages – although their identity has not been confirmed so far. Once the development of the blood-brain barrier...
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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...
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Disorders of cellular trafficking
