A novel variant allele of OATP-C (SLCO1B1) found in a Japanese patient with pravastatin-induced myopathy

Drug Metab Pharmacokinet. 2004 Dec;19(6):453-5. doi: 10.2133/dmpk.19.453.

Abstract

We have recently found that the frequency of OATP-C*15 is significantly higher in patients who experienced myopathy after receiving pravastatin or atorvastatin than in patients without myopathy. However, there were two patients who experienced pravastatin-induced myopathy despite the fact that they did not possess OATP-C*15 or other known mutations of OATP-C that have been reported to decrease the function of OATP-C. In this study, we sequenced all of the exons and exon-intron junctions of OATP-C of the two patients and found a novel mutation in exon 12 of OATP-C in one of the patients. In this mutation (1628T>G), there is a substitution of Leu to Trp at position 543 in transmembrane-spanning domain 10 of OATP-C. However, the frequency of this mutation in the Japanese population appears to be very low (<1%).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • DNA / biosynthesis
  • DNA / genetics
  • DNA Primers
  • Exons / genetics
  • Humans
  • Introns / genetics
  • Japan
  • Liver-Specific Organic Anion Transporter 1 / metabolism*
  • Muscular Diseases / chemically induced*
  • Muscular Diseases / metabolism*
  • Mutation
  • Pravastatin / pharmacology*
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • DNA Primers
  • Liver-Specific Organic Anion Transporter 1
  • DNA
  • Pravastatin