{"title":"Reappraisal of <i>ANK2</i> Variants in Cardiovascular Diseases: Uncovering Mechanisms and Future Directions.","authors":"Linjuan Guo, Dexi Wu, Wengen Zhu","doi":"10.31083/RCM26013","DOIUrl":null,"url":null,"abstract":"<p><p>Inherited cardiac arrhythmias, which may lead to sudden cardiac death, represent a significant health risk, with genetic factors playing a key role in their development. The ankyrin 2 (<i>ANK2</i>) gene, encoding ankyrin-B, is implicated in several heritable arrhythmia syndromes. <i>ANK2</i> variants have been linked to an inherited condition known as \"ankyrin-B syndrome\", which manifests as a spectrum of cardiac arrhythmias and cardiomyopathy. Our current review examines the relationship between <i>ANK2</i> variants and specific heart conditions, summarizing recent findings on the genetic and molecular mechanisms underlying <i>ANK2</i>-related arrhythmias and structural abnormalities. By emphasizing the need for further research, this review aims to enhance understanding of <i>ANK2</i>'s role in heart disease and guide the development of effective therapies.</p>","PeriodicalId":20989,"journal":{"name":"Reviews in cardiovascular medicine","volume":"26 1","pages":"26013"},"PeriodicalIF":1.9000,"publicationDate":"2025-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11759970/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Reviews in cardiovascular medicine","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.31083/RCM26013","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0
Abstract
Inherited cardiac arrhythmias, which may lead to sudden cardiac death, represent a significant health risk, with genetic factors playing a key role in their development. The ankyrin 2 (ANK2) gene, encoding ankyrin-B, is implicated in several heritable arrhythmia syndromes. ANK2 variants have been linked to an inherited condition known as "ankyrin-B syndrome", which manifests as a spectrum of cardiac arrhythmias and cardiomyopathy. Our current review examines the relationship between ANK2 variants and specific heart conditions, summarizing recent findings on the genetic and molecular mechanisms underlying ANK2-related arrhythmias and structural abnormalities. By emphasizing the need for further research, this review aims to enhance understanding of ANK2's role in heart disease and guide the development of effective therapies.
期刊介绍：
RCM is an international, peer-reviewed, open access journal. RCM publishes research articles, review papers and short communications on cardiovascular medicine as well as research on cardiovascular disease. We aim to provide a forum for publishing papers which explore the pathogenesis and promote the progression of cardiac and vascular diseases. We also seek to establish an interdisciplinary platform, focusing on translational issues, to facilitate the advancement of research, clinical treatment and diagnostic procedures. Heart surgery, cardiovascular imaging, risk factors and various clinical cardiac & vascular research will be considered.
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