A treatment with a dietary supplement improves motor and communicative skills in people with atypical Rett syndrome

A study published in Science Signalling reveals the administration of L-serine aminoacid –a dietary supplement- contributed to improve the communicative and motor skills of a patient with atypical Rett syndrome, a pathology caused by a mutation affecting glutamate receptors.

The new study is a multicenter translational research study led by researcher Xavier Altafaj, from the Bellvitge Biomedical Research Institute (IDIBELL). Its first author is the researcher David Soto, from the Institute of Neurosciences of the University of Barcelona (see research group) and IDIBAPS.

Patients with atypical Rett syndrome show alterations in the neuronal, motor, cognitive and social development. In this case, the affected patient has a mutation in the GRIN2B gene, which codes for the subunit of NMDA glutamate receptors of the NMDA type called GluN2B. “Our research group studies these receptors, which under physiological conditions are associated with learning processes, memory, neurodevelopment and neuronal plasticity, and are main actors of the exciatory transmission and neuronal function”, says Xavier Altafaj, member of the IDIBELL research group on Neuropharmacology and Pain.

This study opens a new range of therapeutical options for patients with mutations that affect glutamatergic neurotransmission, and counts on the scientific contribution of the team led by Carles Sindreu, member from the Department of Basic Clinical Practice and UBNeuro. Other participants in the study are the experts from the Hospital Sant Joan de Déu (HSJD), the University of Vic, the Hospital de la Santa Creu i Sant Pau, the Rare Diseases Networking Biomedical Research Centre (CIBERER) and the Commissariat à l’Énergie Atomique (CEA, France).