Direct Analysis of Ceruloplasmin in Human Blood Serum by HPLC/Inductively Coupled Plasma-Mass Spectrometry for the Diagnosis of Wilson Disease

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Wilson disease is an autosomal recessive disorder of the copper (Cu) metabolism, which is caused by mutations in the <i>ATP7B</i> gene. Wilson disease is treatable, but the delay of its diagnosis will make the treatment more difficult. The establishment of an analytical method for early diagnosis is a very important for early treatment. Usually, 95% of plasma Cu is bound to ceruloplasmin in blood serum and excreted into the bloodstream in the form of Cu-bound protein (holo-ceruloplasmin) in normal subjects. In the case of Wilson disease patients, ceruloplasmin is excreted into the bloodstream in the non-Cu-bound form for the mutation of the <i>ATP7B</i> gene. In the present study, we analyzed the Cu distribution in the serum of Wilson disease patients by HPLC/inductively coupled plasma-mass spectrometry (ICP-MS). With this method, ceruloplasmin was detected as a Cu peak at a retention time of 12.2 min in the serum of a healthy human. This result demonstrates that holo-ceruloplasmin in human serum was detectable using the present HPLC/ICP-MS method. On the other hand, on Wilson disease patients, no significant Cu was detected within this retention time. These results indicate that a normal level of holo-ceruloplasmin was not detected in the serum of Wilson disease patients. We suggest that the determination of ceruloplasmin by HPLC/ICP-MS in human serum is beneficial as a new tool for the diagnosis of Wilson disease.

収録刊行物

  • Biomedical research on trace elements  

    Biomedical research on trace elements 18(1), 91-95, 2007-03-31 

    Japan Society for Biomedical Research on Trace Elements

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各種コード

  • NII論文ID(NAID)
    10018911132
  • NII書誌ID(NCID)
    AN10423256
  • 本文言語コード
    ENG
  • 資料種別
    SHO
  • ISSN
    0916717X
  • NDL 記事登録ID
    8769471
  • NDL 雑誌分類
    ZS8(科学技術--医学--解剖学・生理学・生化学)
  • NDL 請求記号
    Z19-3255
  • データ提供元
    CJP書誌  NDL  J-STAGE 
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