Fumiaki Sakura (Japan)
Hiroshima University
Paediatrics
I'm a PhD student in the lab of Prof. Satoshi Okada at Hiroshima University Graduate Schools of Biomedical and Health Sciences. My current clinical focus and research interests are the multi-omics approaches for understanding the pathophysiology and genetic cause of Inborn Errors of Immunity. My laboratory is collaborating with a number of universities in Japan and the Kazusa DNA Research Institute for the clinical implementation of this brand-new method. In addition, I also perform functional analysis of genes using cell lines and have contributed to several studies. The goal of my research is to improve the efficiency of genetic diagnosis by integrating dry and wet analysis. In my daily life, I enjoy playing football and belong to an amateur team that regularly plays matches. I am looking forward to visiting Europe as it is very advanced not only in medicine, especially in immunodeficiency diseases, but also in football.

Presenter of 1 Presentation

 Conference Calendar

A PROTEOME-BASED APPROACH FOR THE DIAGNOSIS OF INBORN ERRORS OF IMMUNITY

Session Type
Parallel Sessions
Session Name
0940 - Parallel Session 12: Artificial Intelligence in IEI (ID 75)
Date
Fri, 14.10.2022
Session Time
14:00 - 15:30
Room
Session Hall 02
Lecture Time
15:12 - 15:22
Presenter

Abstract

Background and Aims

Monogenic germline defects cause Human Inborn Errors of Immunity (IEI). While more than 450 responsible genes have been identified due to advances in next-generation sequencing technology, there is still room for improvement in the efficiency of genetic diagnosis. Recently, proteomics using peripheral blood mononuclear cells (PBMCs) has been well studied. However, previous proteomic studies for PBMCs have had a limitation in the coverage of protein (about 3000). Thereby, more comprehensive data is needed to gain rational insight into the molecular mechanisms underlying aberrant immune systems. This study aimed to elucidate the pathophysiology of IEI using PBMCs’ proteomics as the first-tier diagnosis of IEI, and to gain a deeper understanding of genomic etiology using integrated RNA-seq.

Methods

PBMCs were obtained from 70 IEI patients without genetic diagnosis and six healthy subjects. PBMCs’ proteomic data obtained from mass spectrometry-based proteomics were optimized by data processing and were employed to explore B- and T-cell dysfunction and elucidate pathogenic proteins.

Results

Data processing yielded optimized data for 6498 proteins among 63 IEI cases and six healthy controls. Comprehensive proteomics covered proteins even in the minor cell fractions in PBMCs and identified cell-deficient cases based on B- and T-cell specific protein profiles. Furthermore, the diagnostic analysis identified the disease-causing protein in four cases, two of which intriguingly showed no significant findings in RNA-seq.

Conclusions

Proteomics provides a deeper insight into the pathogenesis of IEI and improves the efficiency for genetic diagnosis by up to 6%. These findings suggest the utility of a proteomics based diagnostic approach for IEI.

Hide