Research project

Progetto FJL #2074_2021 (DSB.AD005.108)

Thematic area

Biomedical sciences

Project area

Genetica (DSB.AD005)

Structure responsible for the research project

Institute of genetics and biophysics "Adriano Buzzati Traverso" (IGB)

Project manager

Phone number: +390816132338


Rett syndrome (RTT) is a devastating neurodevelopmental disease, considered one of the leading causes of mental
disability in girls. Clinical symptoms include motor disabilities, autistic-like features and mental retardation. RTT is
caused by mutations in MECP2 gene, encoding a master epigenetic factor crucial for nervous system functioning.
Although RTT is reversible in principle, no effective cure is available. The unraveling of altered molecular pathways is
pivotal to develop new therapeutic strategies.
Glycosphingolipid abnormalities were preliminarily observed in RTT brain. However, neither in-depth approaches to
understand the impact of glycosphingolipid derangements in RTT pathogenesis nor appropriate therapeutic
treatments have been attempted so far.
We found altered glycosphingolipid content and deregulation of genes controlling glycosphingolipid metabolism
(glycogenes) in Mecp2-/y mouse brain and in RTT cellular models. Furthermore, MeCP2 modulates the expression of
glycogenes and of AUTS2, an epigenetic factor mutated in autism involved in glycosphingolipid metabolism.
Moreover, MeCP2 and AUTS2 bind the promoter of St3gal5, encoding a key enzyme of glycosphingolipid [..]

Start date of activity



MECP2,, Rett Syndrome, Glycosphingolipids

Last update: 11/12/2023