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Background <p>Wilson’s disease (WD) is an autosomal recessive disorder caused by abnormal copper accumulation in the liver and other tissues, resulting in hepatic, neurological and psychiatric manifestations. The disorder arises due to pathogenic variants in the <i>ATP7B</i> gene, which encodes a P-type ATPase critical for copper transport and homeostasis.</p> Objective <p>This systematic review aimed to elucidate the molecular genetics and clinical spectrum of WD, with emphasis on the role of <i>ATP7B</i> in copper metabolism and the correlation between genotype and phenotype.</p> Methods <p>Relevant studies were systematically reviewed using major scientific databases, focusing on <i>ATP7B</i> mutations, copper transport mechanisms and clinical presentation of WD.</p> Results <p>Mutations in <i>ATP7B</i> impair biliary copper excretion, leading to progressive copper overload, particularly in hepatocytes. The clinical spectrum is highly variable, ranging from asymptomatic liver disease to fulminant hepatic failure and severe neuropsychiatric symptoms. The review highlights the diversity of <i>ATP7B</i> variants and their variable phenotypic expression. Diagnosis requires integration of clinical features, biochemical markers and genetic testing.</p> Conclusion <p>Understanding the molecular pathogenesis of WD is essential for early diagnosis, timely management and the development of targeted therapies. Genetic screening, particularly in populations with a high prevalence of founder mutations, can improve patient outcomes and enhance our understanding of this complex disorder.</p>

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Wilson Disease: A Molecular and Clinical Review of ATP7B Mutations and Copper Dysregulation

  • 期刊论文

  • 发表日期：

    2026年3月3日

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  • Sumreena Mansoor,
  • Warda Gul

摘要

Background

Wilson’s disease (WD) is an autosomal recessive disorder caused by abnormal copper accumulation in the liver and other tissues, resulting in hepatic, neurological and psychiatric manifestations. The disorder arises due to pathogenic variants in the ATP7B gene, which encodes a P-type ATPase critical for copper transport and homeostasis.

Objective

This systematic review aimed to elucidate the molecular genetics and clinical spectrum of WD, with emphasis on the role of ATP7B in copper metabolism and the correlation between genotype and phenotype.

Methods

Relevant studies were systematically reviewed using major scientific databases, focusing on ATP7B mutations, copper transport mechanisms and clinical presentation of WD.

Results

Mutations in ATP7B impair biliary copper excretion, leading to progressive copper overload, particularly in hepatocytes. The clinical spectrum is highly variable, ranging from asymptomatic liver disease to fulminant hepatic failure and severe neuropsychiatric symptoms. The review highlights the diversity of ATP7B variants and their variable phenotypic expression. Diagnosis requires integration of clinical features, biochemical markers and genetic testing.

Conclusion

Understanding the molecular pathogenesis of WD is essential for early diagnosis, timely management and the development of targeted therapies. Genetic screening, particularly in populations with a high prevalence of founder mutations, can improve patient outcomes and enhance our understanding of this complex disorder.