Reduced C27-steroid 26-hydroxylase activity in heterozygotes for cerebrotendinous xanthomatosis.

@article{Bjrkhem1988ReducedC2,
  title={Reduced C27-steroid 26-hydroxylase activity in heterozygotes for cerebrotendinous xanthomatosis.},
  author={Ingemar Bj{\"o}rkhem and Eli Anne Kvittingen and Cara East and Scott Grundy and Sverre Skrede},
  journal={Scandinavian journal of clinical and laboratory investigation},
  year={1988},
  volume={48 5},
  pages={425-9}
}
C27-steroid 26-hydroxylase activity in fibroblasts from two heterozygotes for CTX was determined, using an optimized enzyme assay. With 5 beta-cholestane-3 alpha,7 alpha,12 alpha-triol, 5 beta-cholestane-3 alpha,7 alpha-diol, 7 alpha-hydroxy-4-cholestane-3-one or 7 alpha-hydroxycholesterol as substrates, the activities were about 50% of those of control cells. The Km for the substrates was not increased in the CTX heterozygotes. These findings support that deficiency of the C27-steroid 26… CONTINUE READING