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 is […]
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Posts with tag 'public'
The diseases of the synaptic vesicles open the way to a new group of neurometabolic diseases
The Inborn Errors of Metabolism (IEM) have normally been considered as the result of errors at the genetic level affecting the biochemical pathways of small molecules such as the neurotransmitters glycine, glutamate, GABA, biogenic amines, etc. The altered concentration of such molecules in the Cerebrospinal Fluid (CSF) have always been used as a diagnostic biomarker […]
RETT SYNDROME: FROM THE PATIENT TO THE LABORATORY, A ROUND TRIP
Updating Day in the research carried out on Rett Syndrome by the HSJD and its collaborators.
New in vivo techniques of brain mapping and synapses quantification
The human brain is an extraordinarily complex structure, whose details has not been fully understood. To date, the scientists could be compared to those pioneers that, centuries ago, drew the first geographic maps during dangerous journeys by sea or overland. Indeed, the tridimensional structure of the brain is so complex and difficult to explore that […]
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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