Polymorphisms in the mitochondrially encoded <scp>ATP</scp> synthase 8 gene are associated with susceptibility to bullous pemphigoid in the German population

Hirose, Misa; Schilf, Paul; Benoit, Sandrine; Eming, Rüdiger; Gläser, Regine; Homey, Bernhard; Kunz, Manfred; Nebel, Almut; Peitsch, Wiebke K.; Pföhler, Claudia; Sárdy, Miklós; Schreiber, Stefan; Zillikens, Detlef; Schmidt, Enno; Ibrahim, Saleh M.

doi:10.1111/exd.12732

Cited by 24 publications

(19 citation statements)

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“…The authors analysed large cohorts of BP patients and unrelated healthy individuals from Germany and found that among 19 nonsynonymous SNPs, the A-allele at nt8519 was statistically significantly increased in BP patients. On the one hand, these findings are in keeping with the notion that mutations in MT-ATP8 gene increase susceptibility to autoimmunity in both humans and mice, and, on the other handwith increased susceptibility to target cell damage by reactive oxygen species (ROS) elevated in cells carrying an MT-ATP8 mutation (see references cited in Hirose et al (1)). While the former association suggests contribution of mitochondrial abnormalities to aberrant immune cell function in the BP immunopathology, the latter association suggests the role of increased sensitivity of the keratinocyte adhesive function to the autoimmune attack by BP autoantibodies.…”

supporting

confidence: 75%

“…In this issue of the journal, an important study by Hirose et al. demonstrates for the first time that polymorphisms in the mitochondrially encoded ATP synthase eight gene are associated with susceptibility to bullous pemphigoid (BP).…”

Section: Commentmentioning

confidence: 99%

“…Modern research of molecular mechanisms of keratinocyte detachment in patients with autoimmune bullous dermatoses has revealed, rather unexpectedly, the potential role of mitochondrial dysfunction. In this issue of the journal, an important study by Hirose et al (1) demonstrates for the first time that polymorphisms in the mitochondrially encoded ATP synthase eight gene are associated with susceptibility to bullous pemphigoid (BP).…”

mentioning

confidence: 99%

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The mitochondrion is a common target of disease pathophysiology in pemphigus and pemphigoid

Grando

2015

Experimental Dermatology

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supporting

confidence: 75%

Section: Commentmentioning

confidence: 99%

mentioning

confidence: 99%

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The mitochondrion is a common target of disease pathophysiology in pemphigus and pemphigoid

Grando

2015

Experimental Dermatology

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“…Although the genetic background and mechanism underlying the development of pemphigoid remain to be precisely determined, several studies have suggested a genetic predisposition in its etiology 41– 43 . A German study showed that a polymorphism in the mitochondrially encoded ATP synthase 8 gene ( MT-ATP8 ) may have an association with BP pathogenesis, which suggests a contribution of mitochondrial abnormalities to BP immunopathology 44 . Furthermore, a recent study showed that gene polymorphism in CYP2D6 , which is among the cytochrome P450 isoenzymes, may influence the risk of drug-induced BP 45 .…”

Section: Pemphigoidmentioning

confidence: 99%

Recent advances in the understanding and treatment of pemphigus and pemphigoid

Yamagami¹

2018

F1000Res

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Pemphigus and pemphigoid are characterized as autoimmune blistering diseases in which immunoglobulin G autoantibodies cause blisters and erosions of the skin or mucosa or both. Recently, understanding of the pathophysiology of pemphigus and pemphigoid has been furthered by genetic analyses, characterization of autoantibodies and autoreactive B cells, and elucidation of cell–cell adhesion between keratinocytes. For the management of pemphigus and pemphigoid, the administration of systemic corticosteroids still represents the standard treatment strategy; however, evidence of the efficacy of therapies not involving corticosteroids, such as those employing anti-CD20 antibodies, is increasing. The goal should be to develop antigen-specific immune suppression-based treatments.

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“…Patients with certain HLA subtypes (HLA‐DQB1.03:01 allele) have been shown to have an increased T‐cell activity to several epitopes of BP180, particularly NC16A domain . Also polymorphism in the mitochondrially encoded ATP synthase 8 (MT‐ATP8) and in the CYP2D6, one of cytochrome P450 isoenzymes, gene may be associated with the risk of drug‐induced BP in some cases. It is also generally agreed that individuals with suitable genetic background may develop autoimmune disease when confronted with certain environmental triggers (such as UV radiation) …”

Section: Pathogenesis Of Bullous Pemphigoidmentioning

confidence: 99%

Glucocorticoids: The mode of action in bullous pemphigoid

Kubin

Hellberg

Palatsi

2017

Experimental Dermatology

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Bullous pemphigoid (BP) is the most common of pemphigoid diseases caused by autoantibodies against the structures of dermoepidermal junction followed by complement activation, innate immune cell infiltration, neutrophil proteinase secretion and subepidermal blister formation. The first-line treatment of BP is topical and systemic glucocorticoids (GC). Regulation of the immune system and inflammatory cells is the main target of GC actions. GCs act through genomic and non-genomic mechanisms.The human glucocorticoid receptor (GR) mediates most of the biologic effects of GC:cytosolic GR binds GCs and is capable to bind to glucocorticoid response elements in DNA and either transactivate or transrepress genes depending on the tissue and cell type. In addition, GR exerts rapid, non-genomic effects possibly mediated by membrane-localized receptors or by translocation to mitochondria. GCs can also interact directly with several enzymes and cytokines. As a target treatment for BP, the production of autoantibodies should be discontinued. GCs, in spite of their wide immunosuppressive actions, are weak to stop immunoglobulin G (IgG) autoantibody formation. However, both systemic and topical GCs are able to reduce the clinical symptoms of BP. GCs are used to inhibit the secondary inflammation and symptoms, such as blistering and pruritus, and it is shown that GC treatment will gradually decrease also the autoantibody formation. Our review article analyses the mode of action of GC treatment in BP, as far it is possible due to paucity of modern immunological studies. K E Y W O R D Sauto-bullous pemphigoid180 antibodies, B-cell-activating factor, bullous pemphigoid, corticosteroids, Interleukin-17

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Polymorphisms in the mitochondrially encoded ATP synthase 8 gene are associated with susceptibility to bullous pemphigoid in the German population

Cited by 24 publications

References 10 publications

The mitochondrion is a common target of disease pathophysiology in pemphigus and pemphigoid

The mitochondrion is a common target of disease pathophysiology in pemphigus and pemphigoid

Recent advances in the understanding and treatment of pemphigus and pemphigoid

Glucocorticoids: The mode of action in bullous pemphigoid

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