Brain copper storage after genetic long-term correction in a mouse model of Wilson disease

Wilson disease is a rare autosomal recessive condition caused by mutations in the copper-transporting ATPase ATP7B gene (OMIM: 606882) provoking loss of function and resulting in variable hepatic and neurologic symptoms. Currently, the treatment of Wilson disease focuses on achieving a negative copper balance either with chelators (e.g., d-penicillamine, trientine, and tetrathiomolybdate) or zinc, which reduces copper absorption, or a combination thereof.1 However, these lifelong treatment regimens often cause side effects and do not restore normal copper metabolism. The authors thank Astrid Küppers (Zentralinstitut für Engineering, Elektronik und Analytik, Forschungszentrum Jülich, Jülich, Germany) for excellent technical assistance in LA-ICP-MS measurements. They acknowledge Drs Nick Weber and Bérnard Benichou for critical comments and careful review and Dr. Andreas Matusch (Division of Molecular Neuroimaging, Institute of Neuroscience and Medicine-2, Forschungszentrum Jülich, Germany) for help in preparing murine brains.