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OPINION
Therapeutic strategies for Wilson’s disease: current state and prospects
Pirogov Russian National Research Medical University, Moscow, Russia
Correspondence should be addressed: Arina G. Shokhina
Ostrovityanova, 1, str. 1, Moscow, 117513, Russia; ur.xednay@anihkohs.g.a
Funding: the study was supported by the Russian Science Foundation grant (RSF grant No. 24-74-10106).
Author contribution: Ivanenko AV, Starodubova VD — manuscript writing; Shokhina AG — developing the concept, manuscript writing and editing, obtaining funding.
Wilson’s disease is a rare hereditary disorder caused by the ATP7B gene mutations that leads to copper metabolism disturbances and toxic copper accumulation in the liver, brain, and other organs. The main manifestations include liver damage, neurological and psychiatric symptoms. The use of advanced treatment methods (D-penicillamine, trientine, zinc salts) improves the outcome, but is limited by side effects and complexity of adherence to therapy. Liver transplantation is used in severe forms, but it is limited by the donor shortage and the need for immunosuppression. In our opinion, promising areas include gene therapy involving the use of AAV vectors and CRISPR/Cas9, mRNA platforms, and cell technologies. However, these approaches require further research for the efficacy, safety, and accessibility improvement.
Keywords: gene therapy, Wilson’s disease, monogenic disorder, ATP7B, copper overload, cellular therapy