Molinari Florence, Meskanaite Virginia, Munnich Arnold, Sonderegger Peter, Colleaux Laurence
Départment de Génétique et Unité de Recherche sur les Handicaps Génetiques de l'Enfant, INSERM U393, Hôpital Necker-Enfants Malades, Cedex 15, France.
Hum Mol Genet. 2003 Oct 15;12 Spec No 2:R195-200. doi: 10.1093/hmg/ddg276. Epub 2003 Aug 12.
Cumulative evidence has shown that a delicate balance between serine proteases and their inhibitors is crucial for normal functioning of several biological pathways. The importance of proteases and their inhibitors is well documented in several human diseases. Among them, the best documented are hemophilia B, a genetic deficiency of the serine protease coagulation factor IX and serpinophathies. Alpha-1-antitrypsin deficiency (MIM 107400), is associated with early-onset emphysema and liver disease, while hereditary angioedema (HANE; MIM 106100) is caused by mutations in the C1 inhibitor, a serpin involved in the regulation of the complement cascade. Recently, two human genetic diseases of the central nervous system have been related to mutations in components of extracellular proteolytic systems. Here, we review the recent advances in this field.
越来越多的证据表明，丝氨酸蛋白酶与其抑制剂之间的微妙平衡对于多种生物途径的正常运作至关重要。蛋白酶及其抑制剂在多种人类疾病中的重要性已有充分记载。其中，记录最详尽的是B型血友病，这是一种丝氨酸蛋白酶凝血因子IX的遗传性缺乏症以及丝氨酸蛋白酶抑制剂病。α-1抗胰蛋白酶缺乏症（MIM 107400）与早发性肺气肿和肝病有关，而遗传性血管性水肿（HANE；MIM 106100）是由C1抑制剂的突变引起的，C1抑制剂是一种参与补体级联调节的丝氨酸蛋白酶抑制剂。最近，两种中枢神经系统的人类遗传疾病与细胞外蛋白水解系统成分的突变有关。在此，我们综述该领域的最新进展。
