Cellular and Molecular Alterations in the Down Syndrome Brain: A Starting Point for the Design of Therapeutic Approaches

Dear Colleagues,

Down syndrome (DS) is a relatively high-incidence genetic disorder caused by the triplication of human chromosome 21 (HSA21). This disorder is characterized by many brain alterations both at microscopic and macroscopic levels already present at birth or before it. Some of these alterations remain constant throughout the life of individuals with DS (e.g., dendritic pathology), and others occur/worsen during the course of life (e.g., neuropathology of Alzheimer’s disease). Alterations in brain development and subsequent structural and behavioral defects across the life span of individuals with DS have been linked to an extra copy of one or more of the 300 genes on HSA21 that can affect the expression and functions of other genes, disturbing in turn several developmental processes and the functions of brain cells and their organelles.

The overall effects of the triplicated genes on cognitive defects and cognitive decline in DS are currently still under investigation. Understanding the multiple cellular and molecular mechanisms underlying the complexity of the DS phenotype is fundamental for the identification of more suitable therapeutic targets for the treatment of intellectual disability and Alzheimer’s disease in DS, a crucial aspect that still needs to be addressed.

This Special Issue aims to gather the most recent advances in the research concerning alterations of brain function in DS, with a particular focus on the identification of new cellular and molecular mechanisms underlying the neuropathogenesis of this condition and on the development of therapeutic approaches in different experimental models of DS such as cultured cells, human cells, organoids, and animal models.

We are pleased to invite you to collaborate with an original research article or a review relevant to the following topics: 

• Altered pathways in different models of DS
• Molecular pathways involved in the neurodevelopment in DS
• Molecular pathways involved in the neurodegeneration in DS
• Function of cellular organelles in DS
• Effects of therapies on altered pathways in DS.

Prof. Dr. Sandra Guidi
Dr. Fiorenza Stagni
Dr. Marco Emili
Guest Editors

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• down syndrome
• cellular defects
• deranged molecular pathways
• altered neurodevelopment
• neurodegeneration
• effects of therapies