Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.
Integrating animal models and in vitro tissue models to elucidate the role of desmosomal proteins in diseases.
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DOI：
10.3109/15419061.2013.876015
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发表时间：
2014-02
影响因子：
--
通讯作者：
Koch PJ
中科院分区：
文献类型：
--
作者：
Koster MI;Dinella J;Chen J;O'Shea C;Koch PJ
桥粒是细胞间的连接，为组织提供结构稳定性。这些连接也可能作为信号中心，将环境线索传递给细胞，从而影响细胞的分化、迁移和增殖。桥粒基因突变引起的破坏性皮肤和心脏疾病突显了桥粒的重要性。最近的观察表明，桥粒蛋白的异常表达可能间接导致了以前与这些蛋白无关的皮肤病。例如，据推测，受强直性眼睑外胚层缺陷-唇腭裂综合征(AEC)影响的患者会出现桥粒蛋白表达减少，AEC是一种由转录因子TP63突变引起的皮肤脆性疾病。目前，这些桥粒基因表达的变化对AEC的作用尚不清楚。我们将讨论结合体外和体内模型的新方法，以阐明桥粒基因去调控在人类皮肤病(如AEC)中的作用。
Desmosomes are intercellular junctions that provide tissues with structural stability. These junctions might also act as signaling centers that transmit environmental clues to the cell, thereby affecting cell differentiation, migration, and proliferation. The importance of desmosomes is underscored by devastating skin and heart diseases caused by mutations in desmosomal genes. Recent observations suggest that abnormal desmosomal protein expression might indirectly contribute to skin disorders previously not linked to these proteins. For example, it has been postulated that reduced desmosomal protein expression occurs in patients affected by Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), a skin fragility disorder caused by mutations in the transcription factor TP63. Currently, it is not clear how these changes in desmosomal gene expression contribute to AEC. We will discuss new approaches that combine in vitro and in vivo models to elucidate the role of desmosomal gene deregulation in human skin diseases such as AEC.