Journal article

Polymorphisms in the Mitochondrial Genome Are Associated With Bullous Pemphigoid in Germans.

Juliane Russlies, Anke Fähnrich, Mareike Witte, Junping Yin, Sandrine Benoit, Regine Gläser, Claudia Günter, Rüdiger Eming, Jeanette Erdmann, Damian Gola, Yask Gupta, Maike Marleen Holtsche, Johannes S Kern, Inke R König, Dimitra Kiritsi, Wolfgang Lieb, Christian D Sadik, Miklós Sárdy, Franziska Schauer, Nina van Beek Show all

Front Immunol | Published : 2019

Abstract

Bullous pemphigoid (BP) is the most prevalent autoimmune skin blistering disease and is characterized by the generation of autoantibodies against the hemidesmosomal proteins BP180 (type XVII collagen) and BP230. Most intriguingly, BP is distinct from other autoimmune diseases because it predominantly affects elderly individuals above the age of 75 years, raising the question why autoantibodies and the clinical lesions of BP emerges mostly in this later stage of life, even in individuals harboring known putative BP-associated germline gene variants. The mitochondrial genome (mtDNA) is a potential candidate to provide additional insights into the BP etiology; however, the mtDNA has not been ex..

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