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Biochemical and molecular characrerisation of neurological Wilson disease
  • 작성일2019-05-09
  • 최종수정일2019-05-09
  • 담당부서연구기획과
  • 연락처043-719-8033
  • 640
Journal of medical genetics, 2018, 55(9), 587─593, DOI: https://doi.org/10.1136/jmedgenet-2017-105214

Biochemical and molecular characrerisation of neurological Wilson disease

Go Hun Seo, Yoon-Myung Kim; Seak Hee Oh; Sun Ju Chung; In Hee Choi; Gu-Hwan Kim; Mi-Sun Yum; Jin-Ho Choi; Kyung Mo Kim; Tae-Sung Ko; Beom Hee Lee; Han-Wook Yoo

Abstract

    Background: To identify biochemical and genetic features that characterise neurological Wilson disease as a distinct disease subgroup.
    Methods: Detailed biochemical profiles and genotypic characteristics of neurological (86 patients) and hepatic subgroups (233 patients) from 368 unrelated Korean families were analysed.
    Results: Compared with patients in the hepatic subgroup, patients in the neurological subgroup had a later age at onset, a higher proportion with Kayser-Fleischer rings and higher serum creatinine levels, and a lower proportion with favourable outcome (62% vs 80%, P<0.016). At diagnosis, the neurological subgroup had lower serum ceruloplasmin (3.1±2.1 mg/dL vs 4.2±3.2 mg/dL, P<0.001), total copper (26.4±13.8 μg/dL vs 35.8±42.4 μg/dL, P=0.005), free copper (17.2±12.5 μg/dL vs 23.5±38.2 μg/dL, P=0.038) and urinary copper (280.9±162.9 μg/day vs 611.1±1124.2 μg/day, P<0.001) levels. Serum aspartate aminotransferase, alanine aminotransferase, gamma glutamyltransferase and total bilirubin levels, as well as prothrombin time, were also lower in the neurological subgroup. Liver cirrhosis was more common but mostly compensated in the neurological subgroup. Frameshift, nonsense or splice-site ATP7B mutations and mutations in transduction or AT P hinge domains (2.4% vs 23.1%, P=0.006) were less common in the neurological subgroup.
    Conclusion: The neurological subgroup had distinct clinical, biochemical and genetic profiles. Further studies are required to identify the factors, with or without association with copper metabolism, underlying the neurological presentation for which treatment needs to be targeted to improve the clinical outcome of this subgroup.



  • 본 연구는 질병관리본부 연구개발과제(과제번호 2018-보건의료생물자원종합관리) 연구비를 지원받아 수행되었습니다.
  • This research was supported by a fund(code 2018-보건의료생물자원종합관리) by Research of Korea Centers for Disease Control and Prevention.


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