Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis.

IF 4.5 2区 医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS Heart Failure Reviews Pub Date : 2024-09-01 Epub Date: 2024-07-10 DOI:10.1007/s10741-024-10416-8
Mahsa Rahimzadeh, Stephanie Tennstedt, Zouhair Aherrahrou
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Abstract

Cardiac disorders exhibit considerable heterogeneity, and understanding their genetic foundations is crucial for their diagnosis and treatment. Recent genetic analyses involving a growing number of participants have uncovered novel mutations within both coding and non-coding regions of DNA, contributing to the onset of cardiac conditions. The NEXN gene, encoding the Nexilin protein, an actin filament-binding protein, is integral to normal cardiac function. Mutations in this gene have been linked to cardiomyopathies, cardiovascular disorders, and sudden deaths. Heterozygous or homozygous variants of the NEXN gene are associated with the development of endocardial fibroelastosis (EFE), a rare cardiac condition characterized by excessive collagen and elastin deposition in the left ventricular endocardium predominantly affecting infants and young children. EFE occurs both primary and secondary to other conditions and often leads to unfavorable prognoses and outcomes. This review explores the role of NEXN genetic variants in cardiovascular disorders, particularly EFE, revealing that functional mutations are not clustered in a specific domain of Nexilin based on the cardiac disorder phenotype. Our review underscores the importance of understanding genetic mutations for the diagnosis and treatment of cardiac conditions.

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心肌病中的 Nexilin:揭示其多种作用,特别关注心内膜纤维细胞增生。
心脏疾病具有很大的异质性,了解其遗传基础对诊断和治疗至关重要。最近,越来越多的参与者参与了基因分析,发现了 DNA 编码和非编码区域内的新型突变,这些突变导致了心脏疾病的发生。编码肌动蛋白丝结合蛋白 Nexilin 蛋白的 NEXN 基因是正常心脏功能不可或缺的组成部分。该基因突变与心肌病、心血管疾病和猝死有关。NEXN 基因的杂合或同源变异与心内膜纤维细胞增生症(EFE)的发生有关,这是一种罕见的心脏疾病,其特点是左心室心内膜胶原蛋白和弹性蛋白沉积过多,主要影响婴幼儿。EFE 既可原发,也可继发于其他疾病,通常会导致不良的预后和结局。本综述探讨了 NEXN 基因变异在心血管疾病(尤其是 EFE)中的作用,揭示了功能性突变并不是根据心脏疾病表型聚集在 Nexilin 的特定领域。我们的综述强调了了解基因突变对诊断和治疗心脏疾病的重要性。
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来源期刊
Heart Failure Reviews
Heart Failure Reviews 医学-心血管系统
CiteScore
10.40
自引率
2.20%
发文量
90
审稿时长
6-12 weeks
期刊介绍: Heart Failure Reviews is an international journal which develops links between basic scientists and clinical investigators, creating a unique, interdisciplinary dialogue focused on heart failure, its pathogenesis and treatment. The journal accordingly publishes papers in both basic and clinical research fields. Topics covered include clinical and surgical approaches to therapy, basic pharmacology, biochemistry, molecular biology, pathology, and electrophysiology. The reviews are comprehensive, expanding the reader''s knowledge base and awareness of current research and new findings in this rapidly growing field of cardiovascular medicine. All reviews are thoroughly peer-reviewed before publication.
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