University of Glasgow, UK.
Cell Tissue Res. 2010 Jan;339(1):167-88. doi: 10.1007/s00441-009-0866-y. Epub 2009 Sep 15.
In 1990, the role of basement membranes in human disease was established by the identification of COL4A5 mutations in Alport's syndrome. Since then, the number of diseases caused by mutations in basement membrane components has steadily increased as has our understanding of the roles of basement membranes in organ development and function. However, many questions remain as to the molecular and cellular consequences of these mutations and the way in which they lead to the observed disease phenotypes. Despite this, exciting progress has recently been made with potential treatment options for some of these so far incurable diseases.
1990 年，通过鉴定 Alport 综合征中的 COL4A5 突变，确定了基底膜在人类疾病中的作用。自那时以来，由于基底膜成分突变引起的疾病数量稳步增加，我们对基底膜在器官发育和功能中的作用的理解也在不断加深。然而，对于这些突变的分子和细胞后果以及它们导致所观察到的疾病表型的方式，仍有许多问题尚未解决。尽管如此，最近在一些目前无法治愈的疾病的潜在治疗选择方面取得了令人振奋的进展。
