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Ion Channel Dysfunctions in Dilated Cardiomyopathy in Limb-Girdle Muscular Dystrophy

Ibrahim El-Battrawy1, Zhihan Zhao1, Huan Lan1

  • 1From the First Department of Medicine, Faculty of Medicine (I.E.-B., Z.Z., H.L., X.L., G.Y., S.L., K.S., J.-D.S., M.B., X.-B.Z., I.A.) and Department of Dermatology, Venereology and Allergology (J.U.), University Medical Centre Mannheim, University of Heidelberg, Germany; DZHK (German Center for Cardiovascular Research), Partner Sites, Heidelberg-Mannheim and Göttingen (I.E.-B., Z.Z., H.L., G.Y., S.L., W.-H.Z., L.C., J.U., T.W., R.B., A.R., D.T., P.M., H.A.K., C.S., M.B., X.-B.Z., O.J.M., I.A.); Institute of Pharmacology and Toxicology, University of Göttingen, Germany (W.-H.Z.); Stem Cell Unit, Clinic for Cardiology and Pneumology, University Medical Center Göttingen, Germany (L.C.); Skin Cancer Unit, German Cancer Research Center (DKFZ), Heidelberg (J.U.); Institute of Experimental and Clinical Pharmacology and Toxicology (T.W.) and Department of Hematology and Oncology (D.N., J.W.), Medical Faculty Mannheim, University of Heidelberg, Germany; Institute for Transfusion Medicine and Immunology, Mannheim, Germany (K.B.); Internal Medicine III, University Hospital Heidelberg, Germany (R.B., A.R., R.P.-W., K.R., D.T., P.M., H.A.K., C.S., O.J.M.); Institute of Experimental Cardiovascular Medicine, University Heart Centre Freiburg, Germany (U.R.); Medical Faculty, University of Freiburg, Germany (U.R.); and Key Laboratory of Medical Electrophysiology of Ministry of Education, Institute of Cardiovascular Research, Southwest Medical University, Luzhou, China (H.L., X.-B.Z.).

Circulation. Genomic and Precision Medicine
|March 17, 2018
PubMed

Insights

Human induced pluripotent stem cell-derived cardiomyocytes from Limb-Girdle muscular dystrophy patients show ion channel dysfunction and calcium imbalance, recapitulating cardiac issues. This provides a platform for studying heart problems in LGMD.

Area of Science:

  • Cardiology
  • Genetics
  • Stem Cell Biology

Background:

  • Limb-Girdle muscular dystrophy (LGMD) is a genetic disorder affecting skeletal muscles, often with cardiac complications like dilated cardiomyopathy (DCM) and arrhythmias.
  • LGMD2I, a subtype, is associated with cardiac manifestations, including DCM and ventricular tachycardia.
  • Patient-specific induced pluripotent stem cells (hiPSCs) offer a model to study these cardiac aspects.
Abstract

Keywords:
action potentialscalcium channels, L-typecardiomyopathy, dilatedinduced pluripotent stem cellsmuscular dystrophies, Limb-Girdle

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