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Related Experiment Videos

Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity.

A Emptoz-Bonneton1, P Cousin, K Seguchi

  • 1Hospices Civils de Lyon, Laboratoire de la Clinique Endocrinologique, Hôpital de l'Antiquaille, Lyon, France.

The Journal of Clinical Endocrinology and Metabolism
|January 14, 2000
PubMed
Summary

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A novel genetic variant of corticosteroid-binding globulin (CBG), named CBG-Lyon, significantly reduces cortisol binding affinity. This discovery explains chronic asthenia and hypotension in a patient by revealing a new mechanism for regulating glucocorticoid hormone access.

Area of Science:

  • Endocrinology and Metabolism
  • Genetics and Molecular Biology
  • Protein Biochemistry

Background:

  • Corticosteroid-binding globulin (CBG) is crucial for regulating glucocorticoid hormone bioavailability.
  • Genetic deficiencies in CBG are rare, with limited known variants affecting cortisol-binding affinity.

Observation:

  • A patient presented with chronic asthenia, hypotension, low serum cortisol, and normal ACTH and urinary cortisol levels.
  • Elevated free cortisol fractions and reduced serum CBG concentration indicated impaired CBG binding activity.
  • Family members showed varying CBG concentrations, with children being heterozygous for a novel CBG polymorphism.

Findings:

  • The patient was homozygous for a novel CBG gene polymorphism (Asp367Asn), designated CBG-Lyon.
  • This Asp367Asn substitution resulted in a four-fold decrease in CBG's affinity for cortisol.

Related Experiment Videos

  • The mutation was confirmed to reduce cortisol-binding affinity in vitro using recombinant CBG.

    • Implications:

    • The Asp367 residue is a critical determinant of CBG's steroid-binding activity.
    • This novel CBG variant (CBG-Lyon) explains the patient's symptoms by altering cortisol transport.
    • Normal hypothalamic-pituitary-adrenal axis regulation can be maintained despite reduced CBG affinity if free cortisol levels remain adequate.