Abstract：
:Wilson's Disease (WD), a copper transport disorder caused by a genetic defect in the ATP7B gene, has been a long time strong candidate for newborn screening (NBS), since early interventions can give better results by preventing irreversible neurological disability or liver cirrhosis. Several previous pilot studies measuring ceruloplasmin (CP) in infants or children showed that this marker alone was insufficient to meet the universal screening for WD. WD results from mutations that cause absent or markedly diminished levels of ATP7B. Therefore, ATP7B could serve as a marker for the screening of WD, if the protein can be detected from dried blood spots (DBS). This study demonstrates that the immuno-SRM platform can quantify ATP7B in DBS in the picomolar range, and that the assay readily distinguishes affected cases from normal controls (p < 0.0001). The assay precision was <10% CV, and the protein was stable for a week in DBS at room temperature. These promising proof-of-concept data open up the possibility of screening WD in newborns and the potential for a multiplexed assay for screening a variety of congenital disorders using proteins as biomarkers in DBS.
journal_name
J Proteome Resjournal_title
Journal of proteome researchauthors
Jung S,Whiteaker JR,Zhao L,Yoo HW,Paulovich AG,Hahn SHdoi
10.1021/acs.jproteome.6b00828subject
Has Abstractpub_date
2017-02-03 00:00:00pages
862-871issue
2eissn
1535-3893issn
1535-3907journal_volume
16pub_type
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