RBCK1缺乏的其他致病途径

E. Demicheva, K. Shinwari, K. Ushenin, M. Bolkov
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引用次数: 0

摘要

RBCK1缺乏症是一种罕见的先天性自身炎症疾病,在分子水平上引起炎症破坏。这种缺乏有三个主要的临床表现:对细菌感染的敏感性增加、自身炎症综合征和支链淀粉在骨骼肌中的积累。支链淀粉样蛋白病引起肌病和心肌病。该病的发病机制研究甚少,可能包括未被注意到的关系。我们对患有RBCK1缺乏症和其他三种自身炎症性疾病的患者进行了基因表达分析。差异表达基因的鉴定揭示了大量参与必需代谢和免疫途径激活的下调基因,包括NF-kB和Pi3k-Akt-mTOR。利用京都基因与基因组百科全书(KEGG)和基因本体资源分析信号通路。预测的蛋白-蛋白相互作用从STRING(检索相互作用蛋白数据库的搜索工具)中检索。除了RBCK1在疾病病理中的主要参与外,一些下调的通路加重了肌病、心肌病和细菌性疾病的症状。所研究的通路可能为开发针对RBCK1缺乏症患者的代偿疗法提供新的靶点。
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Additional Pathogenic Pathways in RBCK1 Deficiency
RBCK1 deficiency is a rare congenital autoinflammatory disease that causes inflammatory disruption on the molecular level. This deficiency has three major clinical manifestations: increased sensitivity to bacterial infections, autoinflammation syndrome, and the accumulation of amylopectin in skeletal muscle. The amylopectinosis causes myopathy and cardiomyopathy. The pathogenesis of the disease is poorly investigated and may include unnoticed relationships. We performed gene expression analysis on patients with RBCK1 deficiency and three other autoinflammatory diseases. The identification of differentially expressed genes revealed a large number of downregulated genes that are involved in the activation of essential metabolic and immune pathways, including NF-kB and Pi3k-Akt-mTOR. Signaling pathways were analysed using the KEGG (Kyoto Encyclopedia of Genes and Genomes) and Gene Ontology resource. Predicted protein-protein interactions were retrieved from the STRING (Search Tool for the Retrieval of Interacting proteins database). Besides the primary involvement of RBCK1 in disease pathology, several downregulated pathways aggravate symptoms of myopathy, cardiomyopathy, and bacterial disease. The studied pathways may serve as new targets for the development of compensatory therapies for patients with RBCK1 deficiency.
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来源期刊
Mathematical Biology and Bioinformatics
Mathematical Biology and Bioinformatics Mathematics-Applied Mathematics
CiteScore
1.10
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0.00%
发文量
13
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