[Research progress in gene therapy for Wilson's disease].

Area of Science:

• Genetics
• Hepatology
• Biotechnology

Background:

• Wilson's disease (WD) is an inherited autosomal recessive disorder caused by ATP7B gene mutations, leading to impaired copper excretion.
• Current treatments include drug therapy and liver transplantation, but face challenges like adherence, side effects, and donor scarcity.
• Gene therapy presents a promising avenue for a permanent correction of copper metabolism in WD.

Purpose of the Study:

• To review the current research progress in gene therapy for Wilson's disease.
• To summarize advancements in gene therapy vectors suitable for WD treatment.
• To discuss the application of the CRISPR/Cas9 gene editing system in addressing WD.

Main Methods:

• Literature review of studies on Wilson's disease gene therapy.
• Analysis of research on various gene therapy vectors (e.g., viral, non-viral).
• Examination of CRISPR/Cas9 gene editing strategies targeting the ATP7B gene.

Main Results:

• Gene therapy vectors are being developed to deliver functional ATP7B genes to liver cells.
• CRISPR/Cas9 technology shows potential for precise correction of ATP7B mutations.
• These approaches aim to restore normal copper metabolism and overcome treatment limitations.

Conclusions:

• Gene therapy, particularly using advanced vectors and CRISPR/Cas9, holds significant potential for a curative treatment of Wilson's disease.
• Further research and clinical trials are necessary to translate these findings into safe and effective therapies.
• Gene editing offers a future direction for permanently managing copper overload in WD patients.