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核纤层蛋白的衰退:核纤层蛋白失调与广泛的核纤层蛋白病网络

The Fall of the Armor: Lamin Dysregulation and a Wide Network of Laminopathies.

作者信息

Ray Hrishee, Kundu Tapas K

机构信息

Transcription and Disease Laboratory, Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bengaluru, India.

Department of Biochemistry, Tohoku University Graduate School of Medicine, Sendai, Japan.

出版信息

Subcell Biochem. 2025;115:225-252. doi: 10.1007/978-3-032-00537-3_10.

Abstract

The nuclear membrane of cells harbors a lamina as a critical structural component beneath itself which serves as a dynamic scaffold that maintains nuclear integrity and cellular homeostasis. The primary component of the nuclear lamina is lamins, a set of type V intermediate filament proteins, which form a meshwork to provide mechanical stability while modulating essential biological processes like DNA replication, chromatin organization, and gene expression via mechanotransduction. The clinical significance of lamins is exemplified by laminopathies, a heterogeneous group of genetic disorders arising from mutations in the genes encoding the proteins (LMNA for A-type lamins [A and C], LMNB1 for lamin B1, and LMNB2 for lamin B2) that manifest in the form of a variety of pathologies comprising muscular dystrophies, premature aging syndromes, cardiovascular abnormalities, and metabolic aberrations. Laminopathies, though rare, form the basis of many life-threatening conditions that lack potent therapeutic interventions. Lamins have also been shown to be dysregulated in a multitude of cancers, and research has uncovered a diabolical role of lamins in oncogenesis. The understanding of laminopathies and dysregulation of lamins resulting in disorders is critical in developing novel therapeutic strategies through drug repurposing and epigenetic modulation to curb the burden of the diseases.

摘要

细胞的核膜在其下方含有一层核纤层,作为一种关键的结构成分,它充当动态支架,维持核完整性和细胞内稳态。核纤层的主要成分是核纤层蛋白,这是一组V型中间丝蛋白,它们形成一个网络,提供机械稳定性,同时通过力传导调节DNA复制、染色质组织和基因表达等重要生物学过程。核纤层蛋白的临床意义体现在核纤层蛋白病中,这是一组由编码这些蛋白的基因突变引起的遗传性疾病(A型核纤层蛋白[A和C]的基因是LMNA,核纤层蛋白B1的基因是LMNB1,核纤层蛋白B2的基因是LMNB2),表现为多种病理形式,包括肌肉萎缩症、早衰综合征、心血管异常和代谢紊乱。核纤层蛋白病虽然罕见,但却是许多缺乏有效治疗干预措施的危及生命疾病的基础。核纤层蛋白在多种癌症中也被证明存在失调,研究发现核纤层蛋白在肿瘤发生中起着恶劣作用。了解核纤层蛋白病以及导致疾病的核纤层蛋白失调对于通过药物再利用和表观遗传调节开发新的治疗策略以减轻疾病负担至关重要。

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