McGrath John A, Wessagowit Vesarat
Genetic Skin Disease Group, St John's Institute of Dermatology, The Guy's, King's College and St Thomas' Hospitals' Medical School, London, UK.
Keio J Med. 2005 Jun;54(2):72-9. doi: 10.2302/kjm.54.72.
Over the last eight years, several naturally occurring human gene mutations in structural components of desmosomes, cell-cell adhesion junctions found in skin, heart and meninges, have been reported. These comprise dominant or recessive mutations in plakophilin 1, plakophilin 2, desmoplakin, desmoglein 1, desmoglein 4, plakoglobin and corneodesmosin. Of note, as well as compromising tissue integrity, many of the resulting phenotypes have been associated with visible changes in hair. This article describes the particular hair abnormalities resulting from these desmosome gene mutations. Collectively, the data demonstrate the surprising effects inherited desmosome gene/protein pathology may have on hair growth and development. Further analysis of these and other desmosome genes is likely to resolve more hair disease mysteries and provides several further intriguing new discoveries in years to come.
在过去八年里，已有报道称在桥粒（存在于皮肤、心脏和脑膜中的细胞间粘附连接）的结构成分中出现了几种自然发生的人类基因突变。这些突变包括盘状球蛋白1、盘状球蛋白2、桥粒斑蛋白、桥粒芯糖蛋白1、桥粒芯糖蛋白4、桥粒胶蛋白和角质桥粒蛋白中的显性或隐性突变。值得注意的是，除了损害组织完整性外，许多由此产生的表型还与毛发的明显变化有关。本文描述了这些桥粒基因突变导致的特殊毛发异常。总体而言，数据表明遗传性桥粒基因/蛋白质病理学可能对毛发生长和发育产生惊人的影响。对这些以及其他桥粒基因的进一步分析可能会解开更多毛发疾病之谜，并在未来几年带来更多有趣的新发现。
