title: Blood oxidative stress markers in Gaucher disease patients.
abstract: BACKGROUND
  Gaucher disease (GD) is the most common glycosphingolipidosis resulting in accumulation of glucoceramide. The most effective treatment for this disease is enzyme replacement therapy (ERT) which involves recombinant enzyme infusion. Enzymatic deficiency in GD patients may induce a cascade of events culminating in secondary effects such as the production of reactive oxygen species (ROS). We investigated the relationship between ROS and GD by analyzing blood oxidative stress markers in GD patients submitted to ERT at different stages during the treatment.
  
  
  METHODS
  Blood were collected before and just after enzyme infusion. Red blood cell catalase (CAT), glutathione peroxidase (GPx), superoxide dismutase (SOD) and total glutathione (tGSH), and plasma thiobarbituric acid reactive substances (TBARS) were assayed by spectrophotometry. Homocysteine concentrations and related polymorphisms were also studied. Control individuals matched for sex and age were also analyzed.
  
  
  RESULTS
  Concentrations of homocysteine and TBARS, and GPx enzyme activity were not different in ERT-treated GD patients. CAT activity was higher while SOD was lower in patients compared to controls. No variations in any of these parameters were found before and just after ERT. Regarding tGSH, a significant increase was observed in GD patients after infusion. Genotypic frequencies studied did not differ from controls or other Brazilian samples.
  
  
  CONCLUSIONS
  ERT-treated GD patients show an improvement in antioxidant capacity, which is further increased just after recombinant enzyme infusion.
authors.affiliation: Department of Pediatrics, Universidade Federal de São Paulo/Escola Paulista de Medicina (UNIFESP/EPM), Rua Napoleão de Barros, 925, 3rd floor, ZIP: 04024-002, São Paulo, SP, Brazil.
authors.forename: Fernanda M
authors.initials: FM
authors.lastname: Roversi
authors.forename: Luciano C
authors.initials: LC
authors.lastname: Galdieri
authors.forename: Bruno H C
authors.initials: BH
authors.lastname: Grego
authors.forename: Fernanda G
authors.initials: FG
authors.lastname: Souza
authors.forename: Cecília
authors.initials: C
authors.lastname: Micheletti
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Martins
authors.forename: Vânia
authors.initials: V
authors.lastname: D'Almeida
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood*; D002374:Catalase / Q000097:blood; D002648:Child; D057487:Enzyme Therapy; D004798:Enzymes / Q000235:genetics; D005260:Female; D005776:Gaucher Disease / Q000097:blood* / Q000235:genetics / Q000628:therapy; D005787:Gene Frequency; D005838:Genotype; D005978:Glutathione / Q000097:blood; D005979:Glutathione Peroxidase / Q000097:blood; D006710:Homocysteine / Q000097:blood; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics; D008875:Middle Aged; D018384:Oxidative Stress; D020641:Polymorphism, Single Nucleotide; D011994:Recombinant Proteins / Q000627:therapeutic use; D013482:Superoxide Dismutase / Q000097:blood; D017392:Thiobarbituric Acid Reactive Substances / Q000378:metabolism; D013997:Time Factors
chemical_list: D015415:Biomarkers; D004798:Enzymes; D011994:Recombinant Proteins; D017392:Thiobarbituric Acid Reactive Substances; D006710:Homocysteine; D002374:Catalase; D005979:Glutathione Peroxidase; D013482:Superoxide Dismutase; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D005978:Glutathione