Scientists from the research center Applied Medicine (CIMA) have discovered a molecule, GluN3A, that causes the pathological elimination of neuronal connections in Huntington's disease. The results have been published in the scientific journal Nature Medicine, a subsidiary of Nature for research with clinical application.

"The finding is a breakthrough in the development of therapies, based on blocking brain receptors containing the GluN3A subunit, to stop this serious neurodegenerative and hereditary disease," explains Dr. Sonia framework, lead author of work, which has been directed by Dr. Isabel Pérez-Otaño, at partnership with Dr. John Wesseling, both from CIMA, and Dr. Jordi Alberch, from the University of Barcelona.

NMDA receptors are channels that interact with glutamate, a potent brain neurotransmitter, and control the efficient production of new nerve connections and memories. GluN3A-containing variants are selectively expressed in young brains and their function is to eliminate redundant or unnecessary neuronal connections (or synapses) during early brain development . "GluN3A is almost undetectable in adult individuals. But the new study demonstrates that this molecule is abnormally elevated in patients with Huntington's disease, and that suppressing this abnormality prevents the disordered elimination of synapses and corrects the symptoms of this severe neurodegenerative disease in mice," explain the researchers at CIMA.

Huntington's disease is a rare, neurodegenerative, hereditary disease that causes severe motor and cognitive impairment and psychiatric disorders. Although the mutation Genetics that causes the disease has been known for many years, there is currently no cure or effective treatment. The work published in Nature Medicine identifies a completely novel therapeutic strategy. "We are currently starting to develop drugs that can block the GluN3A subunit. Moving promising molecules from the bench at laboratory to the clinic is a challenge".