• rett syndrome
• astrocytes
• nerve growth factor

Rett syndrome is a rare neurodevelopmental disease, affecting 1 over 10,000 females born worldwide. The main cause is a series of sporadic genetic mutations in the methyl-CpG-binding protein 2 (MECP2) gene, located in the long arm of the X chromosome. At the moment, no specific pharmacological treatments are available against this disease. In 2009, it was found that MECP2 gene is also expressed in astrocytes and that the loss of function in these cells plays a crucial role in triggering neuronal deficits. Besides, the dysregulation of the Nerve Growth Factor (NGF) pathways is involved in many neurodegenerative and neurodevelopmental diseases, such as Rett syndrome. It has been found to be decreased in blood serum of girls affected by Rett syndrome. Given its neurotrophic properties, NGF can be considered a very important therapeutic molecule, intuitively applicable as a treatment against the aforementioned diseases. I hypothesized and subsequently tested that intranasal administration of a mutated form of NGF, called human NGF painless (hNGFp), has a beneficial effect on MECP2KO astrocytes and thus on the overall syndrome. I obtained promising preliminary in vitro and in vivo results, concerning both astrocytic NGF receptors expression and astrocytic morphology.