{"id":"hum0266","version":1,"url":"https://humandbs.dbcls.jp/research/hum0266/v1","datePublished":"2022-12-27","versions":[{"version":1,"datePublished":"2022-12-27"}],"title":{"ja":"患者検体を用いた自己免疫性皮膚疾患発症機序の解明","en":"Elucidation of the pathogenesis of autoimmune dermatosis using patient samples."},"summary":{"aims":{"ja":"自己免疫性皮膚疾患である天疱瘡では自己抗原であるデスモグレインに対する自己抗体が産生することで発症する。臨床的にはB細胞を標的とする治療が効果的であることがわかっており、デスモグレイン特異的B細胞が病態に重要な役割を担っていると考えられる。本研究では、標識をつけたデスモグレイン蛋白を使って患者末梢血中のデスモグレイン特異的B細胞を単離し、網羅的遺伝子解析をすることでその特性や治療による遺伝子発現変化を解析し、病勢マーカーや治療に結びつけることを目的としている。","en":"Pemphigus, an autoimmune skin disease, is caused by the production of autoantibodies against desmoglein, an autoantigen. Clinically, treatment targeting B cells has been shown to be effective, and desmoglein-specific B cells may play an important role in the pathogenesis. The purpose of this research is to isolate desmoglein-specific B cells in the peripheral blood of patients using labeled desmoglein protein, and to analyze their characteristics and changes in gene expression due to treatment by comprehensive genetic analysis, and to link them to disease markers and treatments."},"methods":{"ja":"標識したデスモグレイン蛋白またはインフルエンザHA抗原を用いてPBMCから抗原特異的B細胞をFACS ARIA3でシングルセルソートを実施し、SMART-seqでライブラリを作成し、Novaseqにてシークエンスを行った。","en":"Antigen-specific B cells from PBMCs were single-cell sorted with FACS ARIA3 using labeled desmoglein protein or influenza HA antigen, libraries were prepared with SMART-seq, and sequenced with Novaseq."},"targets":{"ja":"3例の天疱瘡患者からデスモグレイン特異的B細胞ならびに非デスモグレイン特異的B細胞。内1例は治療開始後のデスモグレイン特異的B細胞と非デスモグレイン特異的B細胞。\nコントロールとして3例の健常人から取得したインフルエンザHA特異的B細胞と非インフルエンザHA特異的B細胞","en":"Desmoglein-specific B cells and non-desmoglein-specific B cells from 3 patients with pemphigus\nOne of the patients, desmoglein-specific B cells and non-desmoglein-specific B cells after PSL treatment are also included.\nInfluenza HA specific B cells and non-influenza HA specific B cells from 3 healthy subjects as controls"},"url":{"ja":null,"en":null}},"listingSummary":{"methods":{"ja":"発現","en":"Expression profiling"},"targets":{"ja":"天疱瘡：3症例\n健常人：3名\n（日本人）","en":"3 patients with pemphigus\n3 healthy controls\n(Japanese)"},"typeOfData":{"ja":"NGS\n（scRNA-seq）","en":"NGS\n(scRNA-seq)"}},"releaseNote":{"ja":"天疱瘡3症例のデスモグレイン特異的B細胞と非デスモグレイン特異的B細胞、並びに健常人3名のインフルエンザHA特異的B細胞と非インフルエンザHA特異的B細胞から抽出したRNAを用いたsingle cell RNA-seq解析データをfastqファイルにて提供する。SMART-seqでライブラリを作成し、Novaseqにてシークエンスを行った。","en":"RNAs extracted from desmoglein-specific B cells and non-desmoglein-specific B cells from 3 patients with pemphigus, and influenza HA specific B cells and non-influenza HA specific B cells from 3 healthy controls were used for the single cell RNA-seq analyses. Libraries were prepared with SMART-seq, and sequenced with Novaseq. Fastq files are provided."},"dataProviders":[{"name":{"ja":"江上 将平","en":"Shohei Egami"},"organization":{"name":{"ja":"慶應義塾大学医学部 皮膚科学教室","en":"Department of Dermatology, Keio University School of Medicine"}}}],"researchProjects":[],"grants":[{"title":{"ja":"自己反応性B細胞の単一細胞解析による天疱瘡の病態解明","en":"Elucidating pathophysiology of pemphigus by single cell analysis of auto-reactive B cells"},"agency":{"ja":"科学研究費助成事業 基盤研究（B）","en":"KAKENHI Grant-in-Aid for Scientific Research (B)"},"grantIds":["19H03683"]},{"title":{"ja":"稀少難治性皮膚疾患に関する調査研究","en":"Research on rare intractable skin diseases"},"agency":{"ja":"厚生労働科学研究費補助金 難治性疾患政策研究事業","en":"Health and Labor Sciences Research Grants for Research on Rare and Intractable Diseases"},"grantIds":["20FC1052"]}],"relatedPublications":[],"datasets":["JGAD000387"],"controlledAccessUsers":[{"principalInvestigator":{"ja":"浜田 道昭","en":"Michiaki Hamada"},"affiliation":{"ja":"浜田研究室, 理工学術院, 早稲田大学","en":"Hamada Laboratory, Faculty of Science and Engineering, Waseda University"},"country":{"ja":"日本","en":"Japan"},"researchTitle":{"ja":"RNA標的創薬データベースの構築","en":"Construction of RNA-targeted Drug Discovery Database"},"periodStart":"2023-01-05","periodEnd":"2027-10-31","datasets":["JGAD000387"]},{"principalInvestigator":{"en":"Seonpil Jin"},"affiliation":{"en":"Dermatology, Seoul National University Hospital"},"country":{"ja":"韓国","en":"South Korea"},"researchTitle":{"en":"The Study of Immunologic Mechanisms of Tertiary Lymphoid Structures in Pemphigus Using Spatial Transcriptomics"},"periodStart":"2026-01-15","periodEnd":"2027-11-10","datasets":["JGAD000387"]}]}