Cases of Borderline In Vitro Constitutive Thyrotropin Receptor Activity: How to Decide Whether a Thyrotropin Receptor Mutation Is Constitutively Active or Not?

Mueller S., Gozu H. , Bircan R., Jaeschke H., Eszlinger M., Lueblinghoff J., ...Daha Fazla

THYROID, cilt.19, sa.7, ss.765-773, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 19 Konu: 7
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1089/thy.2009.0006
  • Dergi Adı: THYROID
  • Sayfa Sayıları: ss.765-773


Background: Previous in vitro data for several constitutively activating thyrotropin receptor (TSHR) mutations reported divergent results for the constitutive activity of the same mutations. Moreover, several case reports have highlighted the difficulties in determining whether a TSHR mutation is constitutively active or not. Retrospectively, this has repeatedly been the case for mutants with only a slight increase of basal cAMP activity. We re-examined 10 previously described TSHR germline mutations with minor increases of basal cAMP activity and analyzed the influences of the cell line and vector system on the basal receptor activity.