The Liver Meeting 2022-Pediatric Liver Disorders SIG Program: The Many Faces of Wilson Disease and Emerging Therapies

Video Transcription

Video Summary

Wilson disease is a genetic disorder caused by mutations in the ATP7B gene that lead to copper accumulation in the liver and brain. This can result in liver damage and a range of neurological and psychiatric symptoms. The severity of the disease does not necessarily correlate with the genetic mutations. Copper metabolism is complex and involves multiple enzymes and pathways, including the ATP7B gene. Mutations in this gene disrupt copper transport and lead to copper accumulation, causing oxidative stress and damage to proteins and DNA. Epigenetic factors, like DNA methylation, also contribute to the disease. Diagnosis of Wilson disease involves clinical presentation, laboratory tests, and genetic testing. Treatment options include dietary changes, medication to remove excess copper, and liver transplantation for severe cases. The session discussed the importance of assessing non-serologic-bound copper (NSBC) as a biomarker for disease progression and treatment response, as well as the use of chelation therapy, zinc, and emerging treatments like tetraethymolybdate and gene therapy. Ongoing research is needed to improve understanding and management of the disease.

Asset Caption

This program is intended to make the audience aware of the role that ATP7B gene plays in copper metabolism in healthy individuals as well as those with WD, and also explore the role of epigenetics to help unravel the lack of genotype phenotype correlation. Using case studies, the speakers will highlight common as well as more subtle manifestations of WD, to facilitate early diagnosis and improve outcomes; and provide guidance on management of WD in pregnancy. Finally, management of WD that does not respond to standard therapy as well as current trials including genetherapy will be discussed

Keywords

Wilson disease

genetic disorder

ATP7B gene

copper accumulation

liver damage

neurological symptoms

psychiatric symptoms

copper metabolism

oxidative stress

DNA damage

diagnosis

treatment options

ongoing research