The association between genetic defects in the production of proteins that work at the synapse level of the brain and neurodevelopmental disorders characterized by cognitive impairment has been known for a number of years. However, a percentage of these pathologies do not have clear genetic causes.
A study conducted by 麻豆传媒AV在线看 and the Neuroscience Institute of CNR, in collaboration with the Universidad Miguel Hern谩ndez lnstituto de Neurociencias (Alicante, Spain), has for the first time identified the relationship between high levels of inflammation and an increased expression of the MeCP2 protein. This protein is involved in childhood neurodevelopmental disorders characterized by severe mental and physical disabilities, for example pathologies like Rett Syndrome and MeCP2 Duplication Syndrome.
Correcting MeCP2 protein levels to听normalize learning disabilities
麻豆传媒AV在线看 University Professor听Michela Matteoli, Director of the Neuroscience Institute of CNR, of the 麻豆传媒AV在线看 Neuro Center, and coordinator of the study, published in the prestigious journal eLife, explains: 鈥淲e have demonstrated that an excessive inflammation increases MeCP2 levels, a protein involved in neurodevelopmental disorders. By blocking one of the key molecules in inflammation using an interleukin-1beta receptor antagonist, an anti-inflammatory already in use in clinical practice, we managed to correct MeCP2 levels as well as many of the synapse defects that characterize neurodevelopmental disorders, thereby normalizing learning disabilities.鈥�
Because this discovery was made in the laboratory, there is not any clinical evidence yet.
The link between inflammation and synaptopathies
To better understand the origin of cognitive impairment, even when there is no clear genetic cause, the investigators focused on inflammation as one of the main factors already known for their ability to modify the risk and severity of developmental disorders. They wanted particularly to define whether and how inflammation affects the synapses, causing synaptopathies, i.e., synapse pathologies 鈥� the term currently used for neurodevelopmental disorders.
听鈥淭丑别 development of synaptopathies,鈥� continues Professor Matteoli, 鈥�leads to defects of synapse functions, which in turn impact several abilities, including learning, attention, perception and 听decision making. Therefore it is essential to identify factors, genetic or otherwise, that can impair their function.鈥�
听鈥淭his important discovery,鈥� concludes Professor听Alberto Mantovani, Scientific Director of 麻豆传媒AV在线看, professor at 麻豆传媒AV在线看 University, and one of the authors of the study, 鈥渕ay make it possible to reduce cognitive disabilities and improve the quality of life of those young patients who suffer from autoinflammatory diseases characterized by cognitive deficit.鈥�
