In conjunction with international researchers, a Nantes team led by Dr Frédéric Ebstein and Professor Stéphane Bézieau, identified “a new defective gene responsible for a rare form of intellectual disability, associated with behavioral disorders and recurrent obesity in young children”. This work is published in the scientific journal American Journal of Human Genetics.
A faulty molecular grinder at the origin of the disease
Geneticists from Nantes have discovered ten mutations in the PSMD11 gene which strongly affect the action of the proteasome: this crucial macromolecular complex, normally acts as a molecular crusher, removing damaged or unnecessary proteins so that they can be replaced with new ones.
Children carrying these mutations, which therefore disrupt the action of the proteasome, will likely accumulate toxic proteins, which will have consequences on their neurodevelopment. “Our study confirms the cause and effect relationship between proteasome dysfunction and the appearance of neurodevelopmental disorders”explains Wallid Deb, first author.
Nearly half of children with neurodevelopmental disorders do not receive an accurate diagnosis, leaving families with uncertainty and despair. The discovery of Nantes researchers therefore constitutes significant progress for patients. “carriers of a mutation in the PSMD11 gene”. Their pathology is today qualified by Nantes researchers under the concept of “neurodevelopmental proteasomopathies. » With this additional knowledge, there is hope of developing potential long-term treatments.
