title: Lamin A/C Cardiomyopathies: Current Understanding and Novel Treatment Strategies.
abstract: Dilated cardiomyopathy (DCM) is the third leading cause of heart failure in the USA. A major gene associated with DCM with cardiac conduction system disease is lamin A/C (LMNA) gene. Lamins are type V filaments that serve a variety of roles, including nuclear structure support, DNA repair, cell signaling pathway mediation, and chromatin organization. In 1999, LMNA was found responsible for Emery-Dreifuss muscular dystrophy (EDMD) and, since then, has been found in association with a wide spectrum of diseases termed laminopathies, including LMNA cardiomyopathy. Patients with LMNA mutations have a poor prognosis and a higher risk for sudden cardiac death, along with other cardiac effects like dysrhythmias, development of congestive heart failure, and potential need of a pacemaker or ICD. As of now, there is no specific treatment for laminopathies, including LMNA cardiomyopathy, because the mechanism of LMNA mutations in humans is still unclear. This review discusses LMNA mutations and how they relate to DCM, the necessity for further investigation to better understand LMNA mutations, and potential treatment options ranging from clinical and therapeutic to cellular and molecular techniques.
authors.affiliation: Department of Cellular and Molecular Medicine, Lerner Research Institute, Cleveland, OH, USA.
authors.forename: Xi
authors.initials: X
authors.lastname: Wang
authors.affiliation: Department of Cellular and Molecular Medicine, Lerner Research Institute, Cleveland, OH, USA.
authors.forename: Allyson
authors.initials: A
authors.lastname: Zabell
authors.affiliation: Children's Hospital of Pittsburgh, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
authors.forename: Wonshill
authors.initials: W
authors.lastname: Koh
authors.affiliation: Department of Cellular and Molecular Medicine, Lerner Research Institute, Cleveland, OH, USA. tangw@ccf.org.|Department of Cardiovascular Medicine, Heart and Vascular Institute, Cleveland Clinic, Cleveland, OH, USA. tangw@ccf.org.|Center for Clinical Genomics, Cleveland Clinic, Cleveland, OH, USA. tangw@ccf.org.
authors.forename: W H Wilson
authors.initials: WH
authors.lastname: Tang
keywords: Conduction defect; Dilated cardiomyopathy; Lamin A/C cardiomyopathy