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J Proteome Res. 2017 Feb 3;16(2):862-871. doi: 10.1021/acs.jproteome.6b00828. Epub 2016 Dec 9.

Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.

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Seattle Children's Hospital Research Institute , Seattle, Washington 98101, United States.
Fred Hutchison Cancer Research Center , Seattle, Washington 98109, United States.
Asan Medical Center, Ulsan University College of Medicine , Seoul 05505, South Korea.
Department of Pediatrics, University of Washington School of Medicine , Seattle, Washington 98195, United States.


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.


ATP7B; DBS; NBS; WD; Wilson’s disease; dried blood spots; immuno-SRM; mass spectrometry; newborn screening; peptide immunoaffinity enrichment

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