Polymorphisms in the Mitochondrial Genome Are Associated With Bullous Pemphigoid in Germans.
Aged
Aged, 80 and over
Autoantibodies
/ immunology
Autoantigens
/ genetics
DNA, Mitochondrial
/ genetics
Dystonin
/ genetics
Female
Genome, Mitochondrial
/ immunology
High-Throughput Nucleotide Sequencing
Humans
Male
NADH Dehydrogenase
/ genetics
Non-Fibrillar Collagens
/ genetics
Pemphigoid, Bullous
/ genetics
Polymorphism, Single Nucleotide
Collagen Type XVII
autoimmune skin diseases
bullous pemphigoid
mitochondrial DNA
mitochondrial function
mitochondrial haplogroup
next generation sequencing
polymorphisms
Journal
Frontiers in immunology
ISSN: 1664-3224
Titre abrégé: Front Immunol
Pays: Switzerland
ID NLM: 101560960
Informations de publication
Date de publication:
2019
2019
Historique:
received:
31
05
2019
accepted:
30
08
2019
entrez:
12
12
2019
pubmed:
12
12
2019
medline:
31
10
2020
Statut:
epublish
Résumé
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 extensively explored to date. Therefore, we sequenced the whole mtDNA of German BP patients (
Identifiants
pubmed: 31824475
doi: 10.3389/fimmu.2019.02200
pmc: PMC6883920
doi:
Substances chimiques
Autoantibodies
0
Autoantigens
0
DNA, Mitochondrial
0
DST protein, human
0
Dystonin
0
NADH dehydrogenase subunit 4
0
Non-Fibrillar Collagens
0
NADH Dehydrogenase
EC 1.6.99.3
Types de publication
Clinical Trial
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
2200Informations de copyright
Copyright © 2019 Russlies, Fähnrich, Witte, Yin, Benoit, Gläser, Günter, Eming, Erdmann, Gola, Gupta, Holtsche, Kern, König, Kiritsi, Lieb, Sadik, Sárdy, Schauer, van Beek, Weidinger, Worm, Zillikens, Schmidt, Busch, Ibrahim and Hirose.
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