DOI: 10.1126/sciadv.aeg6972 ISSN: 2375-2548
Restoring brain functions in the Mo-blo mouse model of Menkes disease with copper nanoclusters
Audrey Malardé, Jean-Marc Alberto, Benjamin Creusot, Laure Brice, Justine Paoli, Amélia Julien, Rémy Umoret, Pauline Renard, Grégory Pourié, Hervé Sartelet, Philippe Arnoux, Florent Barbault, Eric Brémond, Emma Jung-Rodriguez, Alexa Courty, Michael Walls, Luiz Tizei, Bruno Madebène, Etienne Derat, Benoit Tremblay, Ali Ouadi, David Brasse, David Coelho, Arnaud Wiedemann, David Meyre, Igor Clarot, François Feillet, Ariane Boudier
Menkes disease, caused by
ATP7A
mutations, leads to severe copper deficiency and fatal neurodegeneration. Current copper-histidine therapy fails to restore brain function. Copper nanoclusters (CuNCs) were designed for their ultrasmall size to cross physiological barriers and deliver copper directly to the whole organism, including the brain. In
Mo-blo
mice (ATP7A deficient), daily subcutaneous CuNCs markedly improved survival, normalized cuproprotein activities, and restored cognitive and motor functions. Unlike other treatments, CuNCs effectively penetrate the blood-brain barrier, deliver copper to cuproproteins, offering unprecedented neurological rescue. This breakthrough could transform Menkes disease treatment, providing a first-ever therapy for brain copper deficiency. Further clinical development may unlock lifesaving solutions for this rare, fatal disorder.