The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus

• Published in: European Heart Journal
• Main Authors: Milting, Hendrik, Klauke, Bärbel, Christensen, Alex Hoerby, Müsebeck, Jörg, Walhorn, Volker, Grannemann, Sören, Münnich, Tamara, X0160 Ari X0107, Tomo, Rasmussen, Torsten Bloch, Jensen, Henrik Kjærulf, Mogensen, Jens, Baecker, Carolin, Romaker, Elena, Laser, Kai Thorsten, Zu Knyphausen, Edzard, Kassner, Astrid, Gummert, Jan, Judge, Daniel P, Connors, Sean, Hodgkinson, Kathy, Young, Terry-L, van der Zwaag, Paul, van Tintelen, Peter, Anselmetti, Dario
• Format: Article in Journal/Newspaper
• Language: English
• Published: 2014
• Subjects: Newfoundland
• Online Access: https://pure.au.dk/portal/da/publications/the-tmem43-newfoundland-mutation-ps358l-causing-arvc5-was-imported-from-europe-and-increases-the-stiffness-of-the-cell-nucleus(210586ed-c664-47fa-9fc9-5de472a1b93a).html; https://doi.org/10.1093/eurheartj/ehu077

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic condition caused predominantly by mutations within desmosomal genes. The mutation leading to ARVC-5 was recently identified on the island of Newfoundland and caused by the fully penetrant missense mutation p.S358L in TMEM43. Although TMEM43-p.S358L mutation carriers were also found in the USA, Germany, and Denmark, the genetic relationship between North American and European patients and the disease mechanism of this mutation remained to be clarified.