Meeting report – Desmosome dysfunction and disease: Alpine desmosome disease meeting

Author:

Spindler Volker1,Gerull Brenda23,Green Kathleen J.4456,Kowalczyk Andrew P.78,Leube Rudolf9,Marian Ali J.10,Milting Hendrik11,Müller Eliane J.1213,Niessen Carien14,Payne Aimee S.15,Schlegel Nicolas16,Schmidt Enno17,Strnad Pavel18,Tikkanen Ritva19,Vielmuth Franziska20,Waschke Jens20

Affiliation:

1. University of Basel 1 Department of Biomedicine , , 4056 Basel , Switzerland

2. Comprehensive Heart Failure Center 2 , Department of Internal Medicine I , , 97080 Würzburg , Germany

3. University Hospital Würzburg 2 , Department of Internal Medicine I , , 97080 Würzburg , Germany

4. Feinberg School of Medicine, Northwestern University 3 Department of Pathology , , Chicago, IL 60611 , USA . Department of Dermatology , , Chicago, Illinois , USA

5. Department of Dermatology, Feinberg School of Medicine, Northwestern University 4 , Chicago, Illinois , USA . , Chicago, Illinois , USA

6. Robert H. Lurie Comprehensive Cancer Center, Northwestern University 4 , Chicago, Illinois , USA . , Chicago, Illinois , USA

7. Penn State College of Medicine, The Pennsylvania State University 5 Department of Dermatology , , Hershey, PA 17033 , USA

8. Penn State College of Medicine, The Pennsylvania State University 6 Department of Cellular & Molecular Physiology , , Hershey, PA 17033 , USA

9. Institute of Molecular and Cellular Anatomy, RWTH Aachen University 7 , 52057 Aachen , Germany

10. Center for Cardiovascular Genetics, Institute of Molecular Medicine, The University of Texas Health Science Center 8 , Houston, TX 77030 , USA

11. Erich und Hanna Klessmann-Institut für Kardiovaskuläre Forschung und Entwicklung, Klinik für Thorax- und Kardiovaskularchirurgie, Herz und Diabeteszentrum NRW, Universitätsklinikum der Ruhr-Universität Bochum 9 , Georgstr. 11, 32545 Bad Oeynhausen , Germany

12. University of Bern, Bern, Switzerland. Department for BioMedical Research, Molecular Dermatology and Stem Cell Research, University of Bern 10 Dermfocus, Vetsuisse Faculty , , CH-3008 Bern , Switzerland

13. Inselspital, Bern University Hospital, University of Bern, CH-3010 Bern, Switzerland. Institute of Animal Pathology, Vetsuisse Faculty, University of Bern 11 Department of Dermatology , , CH-3012 Bern , Switzerland

14. Cologne Excellence Cluster on Stress Responses in Aging-associated Diseases (CECAD), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, University of Cologne 12 Department Cell Biology of the Skin , , 50931 Cologne , Germany

15. Perelman School of Medicine, University of Pennsylvania 13 Department of Dermatology , , Philadelphia, Pennsylvania , USA

16. Vascular and Paediatric Surgery University Hospital Würzburg 14 Department of General, Visceral, Transplant , , Wuerzburg 97080 , Germany

17. University of Lübeck, 23538 Lübeck 15 Department of Dermatology , , Germany

18. Medical Clinic III, Gastroenterology, Metabolic Diseases and Intensive Care, University Hospital RWTH Aachen 16 , Pauwelsstr. 30, 52074, Aachen , Germany

19. Institute of Biochemistry, Medical Faculty, University of Giessen 17 , Friedrichstrasse 24, 35392 Giessen , Germany

20. Chair of Vegetative Anatomy, Institute of Anatomy, Faculty of Medicine, Ludwig-Maximilians-Universität LMU Munich 18 , 80336 Munich , Germany

Abstract

ABSTRACT Desmosome diseases are caused by dysfunction of desmosomes, which anchor intermediate filaments (IFs) at sites of cell–cell adhesion. For many decades, the focus of attention has been on the role of actin filament-associated adherens junctions in development and disease, especially cancer. However, interference with the function of desmosomes, their molecular constituents or their attachments to IFs has now emerged as a major contributor to a variety of diseases affecting different tissues and organs including skin, heart and the digestive tract. The first Alpine desmosome disease meeting (ADDM) held in Grainau, Germany, in October 2022 brought together international researchers from the basic sciences with clinical experts from diverse fields to share and discuss their ideas and concepts on desmosome function and dysfunction in the different cell types involved in desmosome diseases. Besides the prototypic desmosomal diseases pemphigus and arrhythmogenic cardiomyopathy, the role of desmosome dysfunction in inflammatory bowel diseases and eosinophilic esophagitis was discussed.

Publisher

The Company of Biologists

Subject

Cell Biology

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