Genetics and gene expression in Lymphangioleiomyomatosis
Genetics and gene expression in Lymphangioleiomyomatosis
复制标题
DOI：
10.1378/chest.121.3_suppl.56s
复制
发表时间：
2002-03-01
期刊：
影响因子：
9.6
通讯作者：
Moss, J
中科院分区：
文献类型：
--
作者：
Pacheco-Rodriguez, G;Kristof, AS;Moss, J
淋巴管平滑肌瘤病（LAM）是一种病因不明的疾病，其特征是肺中异常平滑肌细胞（LAM细胞）的增殖，导致囊性实质破坏和进行性呼吸衰竭。最近的证据表明，LAM细胞的增殖和侵袭性可能部分是由于TSC 2基因的体细胞突变，这与结节性硬化症的发病机制有关。在这里，我们描述了LAM的临床和分子特征，以及目前正在进行的努力，以了解导致进行性肺破坏，并最终导致肺移植或死亡的遗传和生化因素。
Lymphangioleiomyomatosis (LAM) is a disease of unknown etiology that is characterized by the proliferation of abnormal smooth muscle cells (LAM cells) in the lung, which leads to cystic parenchymal destruction and progressive respiratory failure. Recent evidence suggests that the proliferative and invasive nature of LAM cells may be due, in part, to somatic mutations in the TSC2 gene, which has been implicated in the pathogenesis of tuberous sclerosis complex. Here, we describe the clinical and molecular characteristics of LAM, as well as the efforts now under way to understand the genetic and biochemical factors that lead to progressive pulmonary destruction and, ultimately, to lung transplantation or death.