title: Giles F. Filley Lecture. Genetics and gene expression in lymphangioleiomyomatosis.
abstract: 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.
authors.affiliation: Pulmonary-Critical Care Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892-1590, USA.
authors.forename: Gustavo
authors.initials: G
authors.lastname: Pacheco-Rodriguez
authors.forename: Arnold S
authors.initials: AS
authors.lastname: Kristof
authors.forename: Linda A
authors.initials: LA
authors.lastname: Stevens
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhang
authors.forename: Denise
authors.initials: D
authors.lastname: Crooks
authors.forename: Joel
authors.initials: J
authors.lastname: Moss
mesh_terms: D000328:Adult; D005260:Female; D015870:Gene Expression; D016147:Genes, Tumor Suppressor; D006801:Humans; D019656:Loss of Heterozygosity; D008168:Lung / Q000473:pathology; D008175:Lung Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D018192:Lymphangioleiomyomatosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D012097:Repressor Proteins / Q000235:genetics; D014402:Tuberous Sclerosis / Q000235:genetics; D000077005:Tuberous Sclerosis Complex 2 Protein; D014407:Tumor Cells, Cultured; D025521:Tumor Suppressor Proteins; D014481:United States / Q000453:epidemiology
chemical_list: D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins