title: The sequence polymorphism of MnSOD gene in subjects with respiratory insufficiency in COPD.
abstract: BACKGROUND
  Chronic obstructive pulmonary disease (COPD) is associated with the development of respiratory failure, which, in turn, exposes the tissues to oxidative stress, which is both a cause and a result of respiratory insufficiency. The first-line defense against oxidative stress is provided by the mitochondrial enzyme manganese superoxide dismutase (MnSOD), which is a superoxide anion scavenger. It is unknown whether genetic variability of the enzymes protecting against reactive oxygen species (ROS) can influence the development of respiratory failure in COPD patients. The aim of the study was to determine the correlation between polymorphism of MnSOD signal peptide and the occurrence of respiratory failure in the course of COPD.
  
  
  METHODS
  The study group consisted of 162 COPD patients (113 men and 49 women). The control group consisted of 63 subjects. Respiratory failure was diagnosed in 42 COPD patients. In all the examined subjects, the polymorphism resulting in alanine at residue 9 being replaced by valine and the expression of MnSOD in blood cells were determined.
  
  
  RESULTS
  The Val/Val phenotype was demonstrated to occur in COPD patients more frequently than in the control group, as well as being associated with a lower expression level of MnSOD mRNA. Respiratory failure in the course of COPD also correlates with lower expression of MnSOD mRNA.
  
  
  CONCLUSIONS
  The presence of valine at position 9 of the MnSOD signal peptide encoded by exon 2 is a risk factor for the occurrence of respiratory failure in the course of COPD in the Polish population.
authors.affiliation: Department of Pneumology and Allergology, Medical University of Lodz, Lodz, Poland.
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Pietras
authors.forename: Janusz
authors.initials: J
authors.lastname: Szemraj
authors.forename: Andrzej
authors.initials: A
authors.lastname: Witusik
authors.forename: Monika
authors.initials: M
authors.lastname: Hołub
authors.forename: Michał
authors.initials: M
authors.lastname: Panek
authors.forename: Radosław
authors.initials: R
authors.lastname: Wujcik
authors.forename: Paweł
authors.initials: P
authors.lastname: Górski
mesh_terms: D001483:Base Sequence; D005260:Female; D005838:Genotype; D006262:Health; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D029424:Pulmonary Disease, Chronic Obstructive / Q000150:complications* / Q000201:enzymology / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012131:Respiratory Insufficiency / Q000150:complications* / Q000201:enzymology / Q000235:genetics*; D013482:Superoxide Dismutase / Q000235:genetics*; D000099156:Superoxide Dismutase 2
chemical_list: D012333:RNA, Messenger; D013482:Superoxide Dismutase; D000099156:Superoxide Dismutase 2