Research progresses in gene therapy for hepatolenticular degeneration

VernacularTitle:肝豆状核变性的基因治疗研究进展
Author: Gui CHEN ¹ ; Haoyang ZHENG ; Fang LIU ; Jing YUAN ; Yuanhong XU ; Weisheng CHENG
Author Information

1. 安徽医科大学第一附属医院妇产科产前诊断中心，合肥　230022
Publication Type:Journal Article
Keywords: Hepatolenticular degeneration; ATP7B; Gene therapy; Gene editing; Therapeutic
From: Chinese Journal of Hepatology 2025;33(1):97-102
CountryChina
Language:Chinese
Abstract: Hepatolenticular degeneration, also known as Wilson's disease, is a type of autosomal recessive genetic disorder of copper metabolism. The causative gene, ATP7B, is located on the long arm of chromosome 13 and encodes a P-type ATPase that is involved in copper transport. Pathogenic mutations in the ATP7B gene sequence lead to the diminished or lost function of the ATP7B protein, resulting in pathological copper deposition in organs such as the liver, brain, kidneys, and cornea. Currently, the treatment of Wilson's disease primarily involves oral medications to promote copper excretion or reduce copper absorption so as to alleviate the state of illness. However, pharmacological treatment has objective limitations, including the need for lifelong therapy and varying degrees of adverse drug reactions in some patients. Gene therapy can fully correct the genetic defect, restore ATP7B protein function, achieve a curative effect, and improve the patient's quality of life.