The 10th Asia-Oceania Mass Spectrometry Conference (AOMSC2025) - organized by the Mass Spectrometry Society of Japan

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Day 2, June 23(Mon.) 12:40-12:55

Room C (Top of Yaima)

  • 2C-O1-1240
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A novel newborn screening modality: Non-targeted proteome analysis using low-cost iron powders

(KDRI)
oDaisuke Nakajima, Masaki Ishikawa, Ryo Konno, Hideo Sasai, Osamu Ohara, Yusuke Kawashima

Early detection of congenital genetic disorders is crucial for improving patients' quality of life. Dried blood spots (DBS) are valuable in newborn screening (NBS) due to their convenience for collection and storage, and they allow for the detection of metabolites and metabolic enzyme activities. Conversely, direct protein detection from DBS remains in an early stage. Proteomic analysis of DBS encounters issues such as interference from high-abundance proteins, including hemoglobin and albumin, which limit the identification of low-abundance trace proteins.
To address these challenges, a new method called Non-targeted Analysis of Non-specifically DBS-Absorbed proteins (NANDA) was developed. This pipeline optimizes non-targeted proteomic analysis using data-independent acquisition liquid chromatography-mass spectrometry (DIA-LC-MS/MS). NANDA enables parallel processing of 96 DBS samples with a robotic system, identifies over 5,000 proteins, and achieves a throughput of 40 samples per day with minimal loss of protein coverage.
This breakthrough offers a high-throughput solution for NBS and introduces non-targeted quantitative proteome profiling as a new modality in newborn screening. Together, these advancements show potential for improving the early detection and treatment of congenital disorders, paving the way for broader applications in clinical proteomics.

References
1) D. Nakajima et al., bioRxiv, doi: https://doi.org/10.1101/2024.12.25.630353