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亚美尼亚人炎性小体基因表达水平与家族性地中海热发病机制的关联

Association of Inflammasome Gene Expression Levels with Pathogenesis of Familial Mediterranean Fever in Armenians.

作者信息

Hayrapetyan Varduhi, Karapetyan Lana, Ghukasyan Lilit, Atshemyan Sofi, Ghazaryan Hovsep, Vardanyan Valentina, Mukuchyan Vahan, Arakelyan Arsen, Zakharyan Roksana

机构信息

Institute of Biomedicine and Pharmacy, Russian-Armenian University, Yerevan 0051, Armenia.

Laboratory of Human Genomics, Institute of Molecular Biology of the National Academy of Sciences of the Republic of Armenia (NAS RA), Yerevan 0014, Armenia.

出版信息

Int J Mol Sci. 2024 Dec 2;25(23):12958. doi: 10.3390/ijms252312958.

Abstract

Familial Mediterranean fever (FMF) is a genetically determined autoinflammatory disease transmitted mostly by an autosomal recessive mechanism and caused by point mutations of the (Mediterranean FeVer) gene. The aim of this study was to evaluate the expression of inflammasome genes (, , , and ) in patients with FMF compared to controls to understand the changes playing a key role in disease development. We found altered expression levels of the full-length isoform as well as and in FMF patients versus controls. This, once again, highlighted the significance of inflammasome genes in terms of FMF.

摘要

家族性地中海热(FMF)是一种由基因决定的自身炎症性疾病,主要通过常染色体隐性机制遗传,由(地中海热)基因突变引起。本研究的目的是评估FMF患者与对照组相比炎症小体基因(、、、和)的表达情况,以了解在疾病发展中起关键作用的变化。我们发现,与对照组相比,FMF患者中全长亚型以及和的表达水平发生了改变。这再次凸显了炎症小体基因在FMF方面的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d49/11641286/2260e90e9b87/ijms-25-12958-g001.jpg

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