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.
- Biomed. Res. Trace Elements
Biomed. Res. Trace Elements 18(1), 91-95, 2007-03-31
Japan Society for Biomedical Research on Trace Elements