Koster Maranke I, Dinella Jason, Chen Jiangli, O'Shea Charlene, Koch Peter J
Department of Dermatology, University of Colorado School of Medicine and Charles C Gates Center for Regenerative Medicine and Stem Cell Biology, University of Colorado School of Medicine , Aurora, CO , USA.
Cell Commun Adhes. 2014 Feb;21(1):55-63. doi: 10.3109/15419061.2013.876015.
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.
桥粒是细胞间连接结构，为组织提供结构稳定性。这些连接结构也可能作为信号中心，将环境线索传递给细胞，从而影响细胞分化、迁移和增殖。桥粒基因的突变会引发严重的皮肤和心脏疾病，这凸显了桥粒的重要性。最近的观察结果表明，桥粒蛋白表达异常可能间接导致以前与这些蛋白无关的皮肤疾病。例如，据推测，患有睑缘粘连-外胚层缺陷-唇腭裂综合征（AEC）的患者桥粒蛋白表达降低，AEC是一种由转录因子TP63突变引起的皮肤脆性疾病。目前，尚不清楚桥粒基因表达的这些变化如何导致AEC。我们将讨论结合体外和体内模型的新方法，以阐明桥粒基因失调在诸如AEC等人类皮肤疾病中的作用。
