Cardiac Biopsy in Myocarditis
October 1990
in “
The Lancet
”
TLDR Some people have a genetic variation that makes them less effective at breaking down drugs.
The document reports on a study investigating the genetic factors contributing to individuals who are poor metabolizers (PM) of drugs metabolized by the CYP2D6 enzyme. The study involved 24 PM subjects and used PCR to identify the presence of a specific allele, the 29B-like allele, which was found to be homozygous in 54% of the subjects, with an allele frequency of 0.75. Additionally, frequencies of two deletion alleles, 13 kb and 11 kb, were found to be 0.06 and 0.04, respectively. The study also noted that 15% of alleles might be wild-type, potentially including the 29A allele. A comparison of allele frequencies between PM subjects (n=48) and extensive metabolizers (EM, n=370) using RFLP analysis with a CYP2D6 probe revealed significant differences, with the 44 kb allele being a potential indicator of poor drug metabolism.