Martinet N, Martinet Y
Service de Pneumologie, Hôpital Villemin, Nancy.
Rev Mal Respir. 1990;7(6):541-50.
Over the past ten years there has been fundamental progress in molecular biology, i.e. concerning the structure and function of genes. The understanding and diagnosis of several diseases, in particular those of the respiratory system, have been profoundly affected and changed. For example alpha-1-antitrypsin deficiency and the emphysema which results have now been dissected down to a molecular level and characterised by anomalies of certain critical portions of the gene coding for this protein. The same thing is found in cystic fibrosis where, thanks to recent technical progress, it is now possible to make a positive diagnosis in most unaffected carriers. The importance of molecular biology in lung cancer is equally established, and in small cell lung cancer one can already isolate a sub group of cancers presenting with an abnormal amplification of the c-myc oncogene. Finally, the role of inflammatory cells, in particular macrophages, in pulmonary fibrosis is best understood by studying the expression by macrophages of the genes coding for mediators which alter the replication of fibroblasts.
在过去十年里，分子生物学取得了根本性进展，即有关基因的结构和功能方面。对多种疾病的理解和诊断，尤其是呼吸系统疾病，受到了深刻影响并发生了改变。例如，α-1抗胰蛋白酶缺乏症以及由此导致的肺气肿，如今已被深入研究至分子层面，并通过编码该蛋白质的基因某些关键部分的异常来进行表征。囊性纤维化也是如此，由于近期的技术进步，现在有可能在大多数未受影响的携带者中做出阳性诊断。分子生物学在肺癌中的重要性也已确立，在小细胞肺癌中，已经能够分离出一组癌基因c-myc异常扩增的癌症亚组。最后，通过研究巨噬细胞中编码可改变成纤维细胞复制的介质的基因表达，能更好地理解炎症细胞，尤其是巨噬细胞在肺纤维化中的作用。
