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Four isoforms of \u03b1-actinin exist: two non-muscle isoforms (ACTN1 and ACTN4) primarily associated with actin stress fibers and focal adhesions, and two muscle-specific isoforms (ACTN2 and ACTN3) localized to the Z-disk of the striated muscle. Although these isoforms share structural similarities, they exhibit distinct functional characteristics that reflect their specialized roles in various tissues. Genetic variants in \u03b1-actinin isoforms have been implicated in a range of pathologies, including cardiomyopathies, thrombocytopenia, and non-cardiovascular diseases, such as nephropathy. However, the precise impact of these genetic variants on the \u03b1-actinin structure and their contribution to disease pathogenesis remains poorly understood. This review provides a comprehensive overview of the structural and functional attributes of the four \u03b1-actinin isoforms, emphasizing their roles in actin crosslinking and sarcomere stabilization. Furthermore, we present detailed structural modeling of select ACTN1 and ACTN2 variants to elucidate mechanisms underlying disease pathogenesis, with a particular focus on macrothrombocytopenia and hypertrophic cardiomyopathy. By advancing our understanding of \u03b1-actinin\u2019s role in both normal cellular function and disease states, this review lays the groundwork for future research and the development of targeted therapeutic interventions.<\/jats:p>","DOI":"10.1085\/jgp.202413684","type":"journal-article","created":{"date-parts":[[2025,2,7]],"date-time":"2025-02-07T09:57:31Z","timestamp":1738922251000},"update-policy":"https:\/\/doi.org\/10.1085\/jgp.crossmarkpolicy","source":"Crossref","is-referenced-by-count":24,"title":["Structural and functional insights into \u03b1-actinin isoforms and their implications in cardiovascular disease"],"prefix":"10.1085","volume":"157","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-1890-5962","authenticated-orcid":true,"given":"Maya","family":"Noureddine","sequence":"first","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03angcq70","id-type":"ROR","asserted-by":"publisher"}],"name":"School of Medical Sciences, College of Medicine and Health University of Birmingham 1 Department of Cardiovascular Sciences, , Birmingham,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0776-9974","authenticated-orcid":true,"given":"Halina","family":"Mikolajek","sequence":"additional","affiliation":[{"name":"Diamond Light Source Ltd., Harwell Science and Innovation Campus 2 , Didcot,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6433-5692","authenticated-orcid":true,"given":"Neil V.","family":"Morgan","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03angcq70","id-type":"ROR","asserted-by":"publisher"}],"name":"School of Medical Sciences, College of Medicine and Health University of Birmingham 1 Department of Cardiovascular Sciences, , Birmingham,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0802-8617","authenticated-orcid":true,"given":"Chris","family":"Denning","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01ee9ar58","id-type":"ROR","asserted-by":"publisher"}],"name":"Biodiscovery Institute, University of Nottingham 3 , Nottingham,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3277-1438","authenticated-orcid":true,"given":"Siobhan","family":"Loughna","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/01ee9ar58","id-type":"ROR","asserted-by":"publisher"}],"name":"School of Life Sciences, Faculty of Medicine and Health Sciences, University of Nottingham 4 , Nottingham,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4019-1844","authenticated-orcid":true,"given":"Katja","family":"Gehmlich","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03angcq70","id-type":"ROR","asserted-by":"publisher"}],"name":"School of Medical Sciences, College of Medicine and Health University of Birmingham 1 Department of Cardiovascular Sciences, , Birmingham,","place":["UK"]},{"name":"University of Oxford 5 Division of Cardiovascular Medicine, Radcliffe Department of Medicine and British Heart Foundation Centre of Research Excellence Oxford, , Oxford,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9022-0132","authenticated-orcid":true,"given":"Fiyaz","family":"Mohammed","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/03angcq70","id-type":"ROR","asserted-by":"publisher"}],"name":"School of Infection, Inflammation and Immunology, College of Medicine and Health, University of Birmingham 6 Department of Immunology and Immunotherapy, , Birmingham,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2025,2,7]]},"reference":[{"key":"2025020714570030000_bib1","doi-asserted-by":"publisher","first-page":"1721","DOI":"10.1016\/S0006-3495(99)77018-9","article-title":"The actin-based nanomachine at the leading edge of migrating cells","volume":"77","author":"Abraham","year":"1999","journal-title":"Biophys. 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