title: [Expression of GM-CSF in patients with pulmonary alveolar proteinosis].
abstract: OBJECTIVE
  To investigate the expression of granulocyte-macrophage colony-stimulating factor (GM-CSF) protein and mRNA in four patients with pulmonary alveolar proteinosis (PAP).
  
  
  METHODS
  GM-CSF levels were measured with a commercial ELISA kit. RT-PCR was employed to detect the expression of the GM-CSF mRNA in peripheral blood mononuclear cells (PBMC) and alveolar macrophages. To discover the possible mutations, the entire coding region of the GM-CSF cDNA was sequenced by the Sanger dideoxy-mediated chain termination method.
  
  
  RESULTS
  All patients, except for the one with secondary PAP showed no release of GM-CSF either from PBMC or from alveolar macrophages. The expression of the GM-CSF mRNA was normal in all patients, whereas a point mutation at position 382 of the GM-CSF cDNA from "T" to "C" was revealed by cDNA sequencing in one idiopathic PAP patient, which caused a change from isoleucine to threonine in amino acid 117 of the protein.
  
  
  CONCLUSIONS
  Decreased GM-CSF production is associated with the pathogenesis of idiopathic PAP. A point mutation of the GM-CSF cDNA may partly contribute to the decreased GM-CSF production.
authors.affiliation: Department of Pulmonology, Second Affiliated Hospital of Medical School, Zhejiang University, Hangzhou 310009, China.
authors.forename: X
authors.initials: X
authors.lastname: Wang
authors.forename: F
authors.initials: F
authors.lastname: Luo
authors.forename: F
authors.initials: F
authors.lastname: Liu
mesh_terms: D000328:Adult; D004797:Enzyme-Linked Immunosorbent Assay / Q000379:methods; D005260:Female; D015870:Gene Expression; D016178:Granulocyte-Macrophage Colony-Stimulating Factor / Q000096:biosynthesis / Q000235:genetics*; D006801:Humans; D007963:Leukocytes, Mononuclear / Q000166:cytology / Q000187:drug effects / Q000378:metabolism*; D008070:Lipopolysaccharides / Q000494:pharmacology; D016676:Macrophages, Alveolar / Q000166:cytology / Q000187:drug effects / Q000378:metabolism*; D008297:Male; D008875:Middle Aged; D011649:Pulmonary Alveolar Proteinosis / Q000378:metabolism*; D012333:RNA, Messenger; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D008070:Lipopolysaccharides; D012333:RNA, Messenger; D016178:Granulocyte-Macrophage Colony-Stimulating Factor