Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions

International Journal of Molecular Sciences · 4 authors, 2 centres

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The review also details the structure, function, and catalytic cycle of the ATP7B protein and categorizes over 900 identified pathogenic variants, explaining how they disrupt copper transport, folding, and localization, leading to phenotypic diversity. The implications suggest that improved diagnostics and screening are key for early detection and effective management.

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narrative_review

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epidemiology

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ORIGINAL PAPER

PMC10889319

Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions

International Journal of Molecular Sciences

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ABSTRACT

Abstract Wilson’s disease (WD) is an autosomal recessive disorder characterized by toxic accumulation of copper in the liver, brain, and other organs. The disease is caused by pathogenic variants in the ATP7B gene, which encodes a P-type copper transport ATPase. Diagnosing WD is associated with numerous difficulties due to the wide range of clinical manifestations and its unknown dependence on the physiological characteristics of the patient. This leads to a delay in the start of therapy and the subsequent deterioration of the patient’s condition. However, in recent years, molecular genetic testing of patients using next generation sequencing (NGS) has been gaining popularity. This immediately affected the detection speed of WD. If, previously, the frequency of this disease was estimated at 1:35,000–45,000 people, now, when conducting large molecular genetic studies, the frequency is calculated as 1:7026 people. This certainly points to the problem of identifying WD patients. This review provides an update on the performance of epidemiological studies of WD and describes normal physiological functions of the protein and diversified disfunctions depending on pathogenic variants of the ATP7B gene. Future prospects in the development of WD genetic diagnostics are also discussed. Keywords: Wilson’s disease (WD), copper transport ATPase, prevalence, genetic diagnosis

CITATION EXPORT

Elena Vasilievna Ovchinnikova, Mikhail Maksimovich Garbuz, Anna Aleksandrovna Ovchinnikova et al.. Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions. International Journal of Molecular Sciences. (2024). https://doi.org/10.3390/ijms25042402

AUTHORS

4 · 2 CENTRES

Elena Vasilievna Ovchinnikova, Mikhail Maksimovich Garbuz, Anna Aleksandrovna Ovchinnikova, Vadim Vladimirovich Kumeiko

1Institute of Life Sciences and Biomedicine, School of Natural Sciences, Far Eastern Federal University, Vladivostok 690922, [email protected] (M.M.G.);
2A.V. Zhirmunsky National Scientific Center of Marine Biology, Far Eastern Branch of Russian Academy of Sciences, Federal University, Vladivostok 690041, Russia