A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.

IF 7.2 2区 医学 Q1 IMMUNOLOGY Journal of Clinical Immunology Pub Date : 2024-10-25 DOI:10.1007/s10875-024-01821-7
Hirofumi Shibata, Daisuke Nakajima, Ryo Konno, Atsushi Hijikata, Motoko Higashiguchi, Hiroshi Nihira, Saeko Shimodera, Takayuki Miyamoto, Masahiko Nishitani-Isa, Eitaro Hiejima, Kazushi Izawa, Junko Takita, Toshio Heike, Ken Okamura, Hidenori Ohnishi, Masataka Ishimura, Satoshi Okada, Motoi Yamashita, Tomohiro Morio, Hirokazu Kanegane, Kohsuke Imai, Yasuko Nakamura, Shigeaki Nonoyama, Toru Uchiyama, Masafumi Onodera, Ryuta Nishikomori, Osamu Ohara, Yusuke Kawashima, Takahiro Yasumi
{"title":"A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.","authors":"Hirofumi Shibata, Daisuke Nakajima, Ryo Konno, Atsushi Hijikata, Motoko Higashiguchi, Hiroshi Nihira, Saeko Shimodera, Takayuki Miyamoto, Masahiko Nishitani-Isa, Eitaro Hiejima, Kazushi Izawa, Junko Takita, Toshio Heike, Ken Okamura, Hidenori Ohnishi, Masataka Ishimura, Satoshi Okada, Motoi Yamashita, Tomohiro Morio, Hirokazu Kanegane, Kohsuke Imai, Yasuko Nakamura, Shigeaki Nonoyama, Toru Uchiyama, Masafumi Onodera, Ryuta Nishikomori, Osamu Ohara, Yusuke Kawashima, Takahiro Yasumi","doi":"10.1007/s10875-024-01821-7","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>Newborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has made a substantial contribution to public healthcare by facilitating the detection of neonates with genetic disorders. Here, we investigated the applicability of non-targeted quantitative proteomics analysis to newborn screening for inborn errors of immunity (IEIs).</p><p><strong>Methods: </strong>DBS samples from 40 healthy newborns and eight healthy adults were subjected to non-targeted proteomics analysis using liquid chromatography-mass spectrometry after removal of the hydrophilic fraction. Subsequently, DBS samples from 43 IEI patients were analyzed to determine whether patients can be identified by reduced expression of disease-associated proteins.</p><p><strong>Results: </strong>DBS protein profiling allowed monitoring of levels of proteins encoded by 2912 genes, including 1110 listed in the Online Mendelian Inheritance in Man database, in healthy newborn samples, and was useful in identifying patients with IEIs by detecting reduced levels of disease causative proteins and their interacting proteins, as well as cell-phenotypical alterations.</p><p><strong>Conclusion: </strong>Our results indicate that non-targeted quantitative protein profiling of DBS samples can be used to identify patients with IEIs and develop a novel newborn screening platform for genetic disorders.</p>","PeriodicalId":15531,"journal":{"name":"Journal of Clinical Immunology","volume":"45 1","pages":"33"},"PeriodicalIF":7.2000,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11511704/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Clinical Immunology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10875-024-01821-7","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"IMMUNOLOGY","Score":null,"Total":0}
引用次数: 0

Abstract

Purpose: Newborn screening using dried blood spot (DBS) samples for the targeted measurement of metabolites and nucleic acids has made a substantial contribution to public healthcare by facilitating the detection of neonates with genetic disorders. Here, we investigated the applicability of non-targeted quantitative proteomics analysis to newborn screening for inborn errors of immunity (IEIs).

Methods: DBS samples from 40 healthy newborns and eight healthy adults were subjected to non-targeted proteomics analysis using liquid chromatography-mass spectrometry after removal of the hydrophilic fraction. Subsequently, DBS samples from 43 IEI patients were analyzed to determine whether patients can be identified by reduced expression of disease-associated proteins.

Results: DBS protein profiling allowed monitoring of levels of proteins encoded by 2912 genes, including 1110 listed in the Online Mendelian Inheritance in Man database, in healthy newborn samples, and was useful in identifying patients with IEIs by detecting reduced levels of disease causative proteins and their interacting proteins, as well as cell-phenotypical alterations.

Conclusion: Our results indicate that non-targeted quantitative protein profiling of DBS samples can be used to identify patients with IEIs and develop a novel newborn screening platform for genetic disorders.

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
先天性免疫错误的非靶向蛋白质组学新生儿筛查平台。
目的:利用干血斑(DBS)样本对代谢物和核酸进行靶向测量的新生儿筛查有助于发现患有遗传性疾病的新生儿,从而为公共医疗保健做出了巨大贡献。在此,我们研究了非靶向定量蛋白质组学分析在新生儿先天性免疫错误(IEIs)筛查中的适用性:方法:40 名健康新生儿和 8 名健康成人的 DBS 样品在去除亲水部分后,采用液相色谱-质谱法进行了非靶向蛋白质组学分析。随后,对 43 名 IEI 患者的 DBS 样本进行了分析,以确定是否可以通过疾病相关蛋白表达的减少来识别患者:DBS蛋白质分析可监测健康新生儿样本中2912个基因编码的蛋白质水平,其中1110个基因被列入在线人类孟德尔遗传数据库,通过检测致病蛋白质及其相互作用蛋白质水平的降低以及细胞表型的改变,DBS蛋白质分析有助于识别IEI患者:我们的研究结果表明,对 DBS 样本进行非靶向定量蛋白质分析可用于识别 IEI 患者,并开发出一种新型的新生儿遗传疾病筛查平台。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
求助全文
约1分钟内获得全文 去求助
来源期刊
CiteScore
12.20
自引率
9.90%
发文量
218
审稿时长
2 months
期刊介绍: The Journal of Clinical Immunology publishes impactful papers in the realm of human immunology, delving into the diagnosis, pathogenesis, prognosis, or treatment of human diseases. The journal places particular emphasis on primary immunodeficiencies and related diseases, encompassing inborn errors of immunity in a broad sense, their underlying genotypes, and diverse phenotypes. These phenotypes include infection, malignancy, allergy, auto-inflammation, and autoimmunity. We welcome a broad spectrum of studies in this domain, spanning genetic discovery, clinical description, immunologic assessment, diagnostic approaches, prognosis evaluation, and treatment interventions. Case reports are considered if they are genuinely original and accompanied by a concise review of the relevant medical literature, illustrating how the novel case study advances the field. The instructions to authors provide detailed guidance on the four categories of papers accepted by the journal.
期刊最新文献
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency. Inborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children. 2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency. A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs. Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1