An amino acid shows therapeutic potential in people with GRIN-related disorders
A pioneering clinical trial led by Dr Àngels Garcia-Cazorla from the Sant Joan de Déu Research Institute · Sant Joan de Déu Hospital has demonstrated that oral administration of the amino acid L-serine can improve the function of glutamate receptors in patients with GRIN-associated disorders, a group of ultra-rare neurological conditions.
GRIN-associated disorders are caused by mutations in the GRIN genes for which there is currently no treatment available. This group of pathologies affects brain development and can cause intellectual disability, movement alterations, social behaviour disturbances, digestive disorders, and epilepsy.
The preliminary results of the trial, recently published in the Brain journal, reveal that treatment with L-serine improved neurological symptoms such as hyperactivity or sustained attention and reduced epileptic seizures. The treatment is more effective in children with milder symptoms than in those with more severe impairments.
How does L-serine work?
This amino acid, one of the building blocks of proteins, is the precursor to D-serine, another amino acid, which binds to glutamate receptors in the brain activating the opening of these channels. This facilitates the entry of calcium into the cell and, ultimately, neuronal communication. In patients with GRIN-related disorders, these glutamate receptors do not function properly. Dr García-Cazorla's team had already used L-serine in previous studies with patients with GRINpathies with mutations in the GRIN2B gene, and they had found that it improved motor and cognitive performance. "We believe that these results open the door to continue exploring new therapeutic strategies for modulating neuronal metabolism, to improve the quality of life of patients with rare diseases," says Dr García-Cazorla. These results represent the starting point for developing new therapeutic strategies for this disease.
*Source: El aminoácido L-serina muestra su eficacia para tratar pacientes con mutaciones en los genes GRIN
