title: [Curative effect of TCM-WM therapy on Wilson disease with different clinical phenotypes and polymorphisms of ATP7B gene].
abstract: OBJECTIVE
  To investigate the curative effect of TCM-WM therapy on Wilson disease (WD) with different clinical phenotypes and polymorphisms of ATP7B gene.
  
  
  METHODS
  One hundred and twenty-two WD patients with different clinical phenotypes were treated with unithiol 20 mg/kg per day and Gandou tablet ([symbol: see text]) for 1 month. Exon 18 of ATP7B gene extracted from patients and 20 healthy volunteers were amplified with PCR technique, mutations and polymorphisms were screened by SSCP analysis.
  
  
  RESULTS
  Four kinds of abnormal migration bands in PCR-SSCP were seen in 37 patients, mutation frequencies of three different clinical phenotypes and curative effect between mutation and non-mutation patients did not show any significant difference, P > 0.05. But total effective rate of patients with Wilson type or pseudosclerosis type was significantly higher than that of patients with hepatic type, P < 0.05.
  
  
  CONCLUSIONS
  The exon 18 of ATP7B gene of Chinese WD patients may be one of the regions with higher mutation frequency, most of them are compound heterozygotes and patients with different clinical phenotypes have different response to TCM-WM therapy. It indicate that specific mutations at least in part play a role in influencing clinical phenotypes and curative effect.
authors.affiliation: Institute of Neurology, Affiliated Hospital, Anhui College of Traditional Chinese Medicine, Hefei 230031.
authors.forename: M
authors.initials: M
authors.lastname: Ren
authors.forename: S
authors.initials: S
authors.lastname: Ju
authors.forename: Z
authors.initials: Z
authors.lastname: Zhang
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D002648:Child; D000073840:Copper-Transporting ATPases; D004359:Drug Therapy, Combination; D004365:Drugs, Chinese Herbal / Q000627:therapeutic use*; D005091:Exons; D005260:Female; D006527:Hepatolenticular Degeneration / Q000188:drug therapy* / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D014494:Unithiol / Q000627:therapeutic use
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D004365:Drugs, Chinese Herbal; D014494:Unithiol; D000251:Adenosine Triphosphatases; C000612464:ATP7B protein, human; D000073840:Copper-Transporting ATPases