Translational Medicine: Towards Gene Therapy of Marfan Syndrome

Klaus Kallenbach; Anca Remes; Oliver J Müller; Rawa Arif; Marcin Zaradzki; Andreas H Wagner

doi:10.3390/jcm11143934

Translational Medicine: Towards Gene Therapy of Marfan Syndrome

J Clin Med. 2022 Jul 6;11(14):3934. doi: 10.3390/jcm11143934.

Authors

Klaus Kallenbach^{1

2}, Anca Remes^{3

4}, Oliver J Müller^{3

4}, Rawa Arif⁵, Marcin Zaradzki⁵, Andreas H Wagner⁶

Affiliations

¹ Institute for Cardiac Surgery and Interventional Cardiology (INCCI), Department of Cardiac Surgery, 1210 Luxembourg, Luxembourg.
² VASCERN HTAD European Reference Center, 1210 Luxembourg, Luxembourg.
³ Department of Internal Medicine III, University of Kiel and University Hospital Schleswig-Holstein, 24105 Kiel, Germany.
⁴ German Centre for Cardiovascular Research, Partner Site Hamburg/Kiel/Lübeck, 20251 Hamburg, Germany.
⁵ Department of Cardiac Surgery, University Hospital Heidelberg, 69120 Heidelberg, Germany.
⁶ Department of Cardiovascular Physiology, Heidelberg University, Im Neuenheimer Feld 326, 69120 Heidelberg, Germany.

Abstract

Marfan syndrome (MFS) is one of the most common inherited disorders of connective tissue caused by mutations of the fibrillin-1 gene (FBN1). Vascular abnormalities, such as the enlargement of the aorta with the risk of life-threatening rupture are frequently observed. However, current treatment is limited and therapeutic options focus solely on symptomatic therapy. Gene therapy focuses on genetically modifying cells to produce a therapeutic effect and may be a promising treatment option for MFS. Here, we first provide an overview of the historical background and characterization of MFS. Subsequently, we summarise current gene therapy options and possible translational concepts for this inherited disorder that affects connective tissue.

Keywords: TGF-β; aorta; aortic surgery; gene therapy; marfan syndrome; translational therapy.

Publication types

Review

Grants and funding

For the publication fee we acknowledge financial support by Deutsche Forschungsgemeinschaft within the funding programme “Open Access Publikationskosten” as well as by Heidelberg University.