8月9日,，德國(guó)科隆大學(xué)發(fā)表公報(bào)說(shuō),，該校與德國(guó)其他4所高校合作研究,，發(fā)現(xiàn)了導(dǎo)致魚(yú)鱗病、牛皮癬等皮膚病表皮剝落癥狀的原因,。這一成果有助于研發(fā)皮膚病的新療法。
研究人員應(yīng)用全基因組關(guān)聯(lián)分析法在人造皮膚細(xì)胞上發(fā)現(xiàn),，在表皮剝落,、皮膚瘙癢等癥狀中，角膜鎖鏈蛋白基因都有一個(gè)純合子突變,。此突變會(huì)破壞整個(gè)角膜鎖鏈蛋白,，令患者全身皮膚細(xì)胞都缺少這種蛋白質(zhì)，導(dǎo)致皮膚抵抗力降低,，各種致敏原及化學(xué)物質(zhì)更容易傷害皮膚,，造成皮膚過(guò)敏發(fā)炎、表皮剝落,、皮膚瘙癢等癥狀,。
據(jù)悉,，研究人員下一步將研究如何用藥物治療的方法恢復(fù)皮膚抵抗力。這一成果發(fā)表在最新一期《美國(guó)人類(lèi)遺傳學(xué)雜志》上,。（生物谷Bioon.com）
生物谷推薦原文出處：
The American Journal of Human Genetics doi:10.1016/j.ajhg.2010.07.005
Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease
Vinzenz Oji1, 8, Katja-Martina Eckl2, 3, 8, Karin Aufenvenne1, Marc N?tebus2, Tatjana Tarinski1, Katharina Ackermann4, Natalia Seller1, Dieter Metze1, Gudrun Nürnberg2, Regina F?lster-Holst5, Monika Sch?fer-Korting4, Ingrid Hausser6, Heiko Traupe1 and Hans Christian Hennies2, 7
1 Department of Dermatology, University Hospital Münster, 48149 Münster, Germany
2 Cologne Center for Genomics, Division of Dermatogenetics, University of Cologne, 50931 Cologne, Germany
3 Center for Physiology and Pathophysiology, Institute for Neurophysiology, University of Cologne, 50931 Cologne, Germany
4 Pharmacology, Institute for Pharmacy, Freie Universit?t Berlin, 14195 Berlin, Germany
5 University Clinic of Dermatology, 24105 Kiel, Germany
6 Department of Dermatology, University Hospital Heidelberg, 69115 Heidelberg, Germany
7 Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany
Generalized peeling skin disease is an autosomal-recessive ichthyosiform erythroderma characterized by lifelong patchy peeling of the skin. After genome-wide linkage analysis, we have identified a homozygous nonsense mutation in CDSN in a large consanguineous family with generalized peeling skin, pruritus, and food allergies, which leads to a complete loss of corneodesmosin. In contrast to hypotrichosis simplex, which can be associated with specific dominant CDSN mutations, peeling skin disease is characterized by a complete loss of CDSN expression. The skin phenotype is consistent with a recent murine Cdsn knockout model. Using three-dimensional human skin models, we demonstrate that lack of corneodesmosin causes an epidermal barrier defect supposed to account for the predisposition to atopic diseases, and we confirm the role of corneodesmosin as a decisive epidermal adhesion molecule. Therefore, peeling skin disease will represent a new model disorder for atopic diseases, similarly to Netherton syndrome and ichthyosis vulgaris in the recent past.
