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Related Experiment Video

Updated: May 1, 2026

Positron Emission Tomography Using 64-Copper as a Tracer for the Study of Copper-Related Disorders

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Published on: April 28, 2023

Population screening for Wilson's disease.

¹Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, Seattle, Washington.

Annals of the New York Academy of Sciences

|April 16, 2014

Summary

This summary is machine-generated.

Early detection of Wilson's disease is crucial for preventing severe complications. Liquid chromatography-multiple reaction monitoring-mass spectrometry (LC-MRM-MS) shows promise for improved diagnostics and potential newborn screening.

Keywords:

ATP7B LC-MRM-MS LC-MS/MS Wilson's disease ceruloplasmin newborn screening population screening

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Published on: August 21, 2016

Area of Science:

Genetics and Molecular Biology
Biochemistry
Medical Diagnostics

Background:

Wilson's disease is an inherited disorder affecting copper transport due to ATP7B gene mutations.
Delayed diagnosis leads to severe neurological damage and cirrhosis, despite available treatments.
Current diagnostic methods include liver copper measurement and genetic testing, with no effective newborn screening tools.

Purpose of the Study:

To explore advanced proteomic techniques for Wilson's disease research.
To identify potential biomarkers for early diagnosis and screening.
To investigate the utility of LC-MRM-MS for Wilson's disease diagnostics.

Main Methods:

Review of current diagnostic approaches for Wilson's disease.
Introduction of liquid chromatography-multiple reaction monitoring-mass spectrometry (LC-MRM-MS) technology.
Discussion of LC-MRM-MS for quantifying low-abundance peptides.

Main Results:

Existing diagnostic methods are often insufficient for early detection, especially in newborns.
LC-MRM-MS offers high sensitivity and specificity for peptide quantification.
This technology has the potential to advance protein expression studies and biomarker discovery.

Conclusions:

There is a critical need for improved diagnostic and newborn screening methods for Wilson's disease.
LC-MRM-MS presents a promising technological platform for future research in Wilson's disease.
Further application of LC-MRM-MS may facilitate early diagnosis, biomarker identification, and effective screening strategies.