Role of Golgi complex calcium pumps and the immune system in the pathogenesis of Gougerot-Hailey-Hailey's familial benign pemphigus


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Abstract

Hailey-Hailey’s disease is a rare persistent autosomal dominant hereditary vesiculo-bullous dermatosis characterized by suprabasal link disorders between epidermal cells. Mutations in ATP2C1 gene locus, coding for Ca 2+/Mn 2+ ATPase secretory pathways, play pivotal role in its pathogenesis. Increase of the cytosol calcium concentration and its decrease in Golgi complex are presumed to lead to glycosylation reduction and improper location of epidermal cell adhesion molecules, which can lead to acantholysis. The absence of correlation between the clinical picture and mutation type suggest the existence of other pathogenetic factors, promoting disease manifestation, including the immune response. A review of literature on the role of Golgi complex Capumps and the immune system in the pathogenesis of Hailey-Hailey’s disease is presented.

About the authors

Natalia V. Makhneva

M.F. Vladimirsky Moscow Regional Research and Clinical Institute

Email: makhneva@mail.ru
MD, PhD, DSc, prof. 129110, Moscow, Russia

E. S Chernysh

M.F. Vladimirsky Moscow Regional Research and Clinical Institute

аспирант 129110, Moscow, Russia

L. V Beletskaya

M.F. Vladimirsky Moscow Regional Research and Clinical Institute

доктор мед. наук, профессор 129110, Moscow, Russia

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