THE ROLE OF ATP7B PROTEIN IN COPPER HOMEOSTASIS AND IN THE DEVELOPMENT OF WILSON'S DISEASE: A LITERATURE REVIEW

Abstract

Objectives. The aim of this paper is to study the function of ATP7B protein at the cellular and systemic level, the involvement of the enzyme in maintaining the internal balance of copper ions, and its role in the development of Wilson's disease.

Materials and methods. A structured search was performed in the PubMed electronic database, taking into account relevant articles, published in the last 20 years. The search terms used (in English) were: ”cooper homeostasis”, ”ATP7B gene”, ”Wilson's disease protein”, ”ATP7B protein”, ”ATP7B structure”, ”ATP7B function”, ”pathogenesis of Wilson disease”, ”cooper and ATP7B”.

Results. The ATP7B gene encodes the structure of a protein that carries intracellular copper, a process that is energetically facilitated by the hydrolysis of the adenosine triphosphate. ATP7B protein has a complex multidomain architecture, being located in several tissues. It is an important link in maintaining the balance of copper, both intracellularly and systemically. Reducing the bile excretion of copper causes its excess deposition in several organs, especially the liver and brain, thus affecting the physiological functions of the organs involved and causing the development of Wilson's disease, a rare inherited disease with autosomal recessive transmission and unpredictable clinical picture.

Conclusions. Early diagnosis and early treatment are critical moments in preventing disease progression and irreversible sequelae. A better understanding of the molecular mechanisms that cause abnormal copper deposition and organ damage is key to developing an effective management approach.