Jensen P K, Sørensen C B, Andresen B S, Brandrup F, Veien N K, Buus S K, Gregersen N, Bolund L
Arhus Universitetshospital, klinisk genetisk afdeling.
Ugeskr Laeger. 2000 Mar 27;162(13):1867-72.
The rapid development in human genome research has resulted in a tremendous increase in our understanding of the molecular basis of many genetic skin diseases. One outstanding example of this is diseases caused by mutations in keratin genes, which comprise several disorders of the epidermis, as for example the different types of epidermolysis bullosa simplex. In this respect, the most important questions have been to 1. Define the molecular defect. 2. Unravel the pathophysiological mechanisms that lead to the characteristic phenotype and 3. Design of new therapeutic strategies. Molecular research has contributed significantly to the first two issues whereas a therapeutic break-through has yet to appear.
人类基因组研究的快速发展极大地增进了我们对许多遗传性皮肤病分子基础的理解。一个突出的例子是由角蛋白基因突变引起的疾病，其中包括几种表皮疾病，例如不同类型的单纯性大疱性表皮松解症。在这方面，最重要的问题是：1. 确定分子缺陷。2. 阐明导致特征性表型的病理生理机制。3. 设计新的治疗策略。分子研究在头两个问题上做出了重大贡献，然而治疗上的突破尚未出现。
