8月9日，德国科隆大学发表公报说，该校与德国其他4所高校合作研究，发现了导致鱼鳞病、牛皮癣等皮肤病表皮剥落症状的原因。这一成果有助于研发皮肤病的新疗法。
研究人员应用全基因组关联分析法在人造皮肤细胞上发现，在表皮剥落、皮肤瘙痒等症状中，角膜锁链蛋白基因都有一个纯合子突变。此突变会破坏整个角膜锁链蛋白，令患者全身皮肤细胞都缺少这种蛋白质，导致皮肤抵抗力降低，各种致敏原及化学物质更容易伤害皮肤，造成皮肤过敏发炎、表皮剥落、皮肤瘙痒等症状。
据悉，研究人员下一步将研究如何用药物治疗的方法恢复皮肤抵抗力。这一成果发表在最新一期《美国人类遗传学杂志》上。
生物谷推荐原文出处：
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.
