{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T13:09:40Z","timestamp":1790341780807,"version":"4.1.0"},"reference-count":85,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2024,2,18]],"date-time":"2024-02-18T00:00:00Z","timestamp":1708214400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Ministry of Science and Higher Education of the Russian Federation","award":["FZNS-2023-0017"],"award-info":[{"award-number":["FZNS-2023-0017"]}]},{"name":"Russian academic leadership program Priority 2030","award":["FZNS-2023-0017"],"award-info":[{"award-number":["FZNS-2023-0017"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Wilson\u2019s 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\u2019s 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\u201345,000 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.<\/jats:p>","DOI":"10.3390\/ijms25042402","type":"journal-article","created":{"date-parts":[[2024,2,19]],"date-time":"2024-02-19T05:39:56Z","timestamp":1708321196000},"page":"2402","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":47,"title":["Epidemiology of Wilson\u2019s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions"],"prefix":"10.3390","volume":"25","author":[{"given":"Elena Vasilievna","family":"Ovchinnikova","sequence":"first","affiliation":[{"name":"Institute of Life Sciences and Biomedicine, School of Natural Sciences, Far Eastern Federal University, Vladivostok 690922, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0272-4478","authenticated-orcid":false,"given":"Mikhail Maksimovich","family":"Garbuz","sequence":"additional","affiliation":[{"name":"Institute of Life Sciences and Biomedicine, School of Natural Sciences, Far Eastern Federal University, Vladivostok 690922, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Aleksandrovna","family":"Ovchinnikova","sequence":"additional","affiliation":[{"name":"Institute of Life Sciences and Biomedicine, School of Natural Sciences, Far Eastern Federal University, Vladivostok 690922, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1639-664X","authenticated-orcid":false,"given":"Vadim Vladimirovich","family":"Kumeiko","sequence":"additional","affiliation":[{"name":"Institute of Life Sciences and Biomedicine, School of Natural Sciences, Far Eastern Federal University, Vladivostok 690922, Russia"},{"name":"A.V. Zhirmunsky National Scientific Center of Marine Biology, Far Eastern Branch of Russian Academy of Sciences, Federal University, Vladivostok 690041, Russia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,18]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1016\/j.clinre.2018.03.007","article-title":"Wilson\u2019s disease: A 2017 update","volume":"42","author":"Poujois","year":"2018","journal-title":"Clin. Res. Hepatol. Gastroenterol."},{"key":"ref_2","unstructured":"Albertovich, S.A., Nikolaevich, D.V., and Yuryevna, K.E. (2015). Providing Medical Care and Drug Supply to Patients Suffering from Life-Threatening and Chronic Progressive Rare Diseases. Wilson\u2019s Disease (Hepatolenticular Degeneration), Problems of Standardization in Healthcare. 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