A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity
Hirofumi Shibata1, Daisuke Nakajima2, Ryo Konno2
1Department of Pediatrics, Kyoto University Graduate School of Medicine, 54 Shogoin-Kawahara-Cho, Sakyo-Ku, Kyoto, 606-8507, Japan.
Non-targeted quantitative proteomics of dried blood spot samples can identify infants with inborn errors of immunity (IEIs). This novel approach offers a new platform for newborn screening of genetic disorders.
Area of Science:
- Proteomics
- Genetics
- Immunology
Background:
- Newborn screening (NBS) using dried blood spot (DBS) samples is crucial for detecting genetic disorders.
- Current NBS methods primarily focus on metabolites and nucleic acids.
Purpose of the Study:
- To investigate the use of non-targeted quantitative proteomics on DBS samples for newborn screening.
- To assess the applicability of this method for identifying inborn errors of immunity (IEIs).
Main Methods:
- Non-targeted proteomics analysis using liquid chromatography-mass spectrometry on DBS samples.
- Analysis of samples from healthy newborns, healthy adults, and IEI patients.
Main Results:
- Protein profiling of DBS enabled monitoring of proteins encoded by 2912 genes.
- Successfully identified IEI patients by detecting reduced levels of disease-associated proteins and altered cell phenotypes.
Conclusions:
- Non-targeted quantitative protein profiling of DBS is a viable method for identifying IEI patients.
- This technique can serve as a novel platform for newborn screening of genetic disorders.
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