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核纤层蛋白在突变相关疾病中对脂质代谢的调控

Regulation of Lipid Metabolism by Lamin in Mutation-Related Diseases.

作者信息

Peng Yue, Tang Qianyu, Xiao Fan, Fu Nian

机构信息

The Affiliated Nanhua Hospital, Department of Gastroenterology, Hunan Provincial Clinical Research Center of Metabolic Associated Fatty Liver Disease, Hengyang, China.

The Affiliated Nanhua Hospital, Clinical Research Institute, Hengyang Medical School, University of South China, Hengyang, China.

出版信息

Front Pharmacol. 2022 Feb 25;13:820857. doi: 10.3389/fphar.2022.820857. eCollection 2022.

DOI:10.3389/fphar.2022.820857
PMID:35281936
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8914069/
Abstract

Nuclear lamins, known as type 5 intermediate fibers, are composed of lamin A, lamin C, lamin B1, and lamin B2, which are encoded by and genes, respectively. Importantly, mutations in nuclear lamins not only participate in lipid disorders but also in the human diseases, such as lipodystrophy, metabolic-associated fatty liver disease, and dilated cardiomyopathy. Among those diseases, the mechanism of lamin has been widely discussed. Thereby, this review mainly focuses on the regulatory mechanism of the mutations in the lamin gene in lipid alterations and the human diseases. Considering the protean actions, targeting nuclear lamins may be a potent therapeutic avenue for lipid metabolic disorders and human diseases in the future.

摘要

核纤层蛋白,即5型中间纤维,由核纤层蛋白A、核纤层蛋白C、核纤层蛋白B1和核纤层蛋白B2组成,它们分别由 和 基因编码。重要的是,核纤层蛋白的突变不仅参与脂质紊乱,还参与人类疾病,如脂肪营养不良、代谢相关脂肪性肝病和扩张型心肌病。在这些疾病中,核纤层蛋白的机制已被广泛讨论。因此,本综述主要关注核纤层蛋白基因突变在脂质改变和人类疾病中的调控机制。考虑到其多样的作用,靶向核纤层蛋白可能是未来治疗脂质代谢紊乱和人类疾病的有效途径。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d0/8914069/6783604c3200/fphar-13-820857-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d0/8914069/a3130c0fa5b1/fphar-13-820857-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d0/8914069/d53390187750/fphar-13-820857-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d0/8914069/7313c59cd546/fphar-13-820857-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d0/8914069/2139db0c71f4/fphar-13-820857-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d0/8914069/6783604c3200/fphar-13-820857-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d0/8914069/a3130c0fa5b1/fphar-13-820857-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d0/8914069/d53390187750/fphar-13-820857-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d0/8914069/7313c59cd546/fphar-13-820857-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d0/8914069/2139db0c71f4/fphar-13-820857-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d0/8914069/6783604c3200/fphar-13-820857-g005.jpg

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The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin.导致脂肪营养不良的R482Q型核纤层蛋白A/C突变并不妨碍核纤层蛋白A在脂肪细胞中的核靶向定位或其与emerin的相互作用。
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本文引用的文献

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Ayurvedic management in limb girdle muscular dystrophy - A case report.阿育吠陀疗法治疗肢带型肌营养不良——病例报告
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