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Related Experiment Videos

Thyroxine binding in a TTR Met 119 kindred

I L Alves1, C M Divino, G C Schussler

  • 1Centro de Estudos de Paramiloidose, Hospital de Santo António, Porto, Portugal.

The Journal of Clinical Endocrinology and Metabolism
|August 1, 1993
PubMed
Summary

The transthyretin (TTR) Met 119 variant increases T4 binding due to higher TTR concentration, elevating retinol binding protein but not affecting thyroid hormone levels. Further research is needed on long-term effects.

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Area of Science:

  • Genetics
  • Biochemistry
  • Endocrinology

Background:

  • Transthyretin (TTR) is a key protein in thyroid hormone transport.
  • A TTR variant, Met 119, has been linked to transient euthyroid hyperthyroxinemia.
  • Previous studies on Met 119 carriers yielded conflicting results regarding T4 binding to TTR.

Purpose of the Study:

  • To investigate the effect of the TTR Met 119 variant on T4 binding and TTR concentration.
  • To analyze a kindred with compound heterozygosity for TTR Asn 90 and TTR Met 119 variants.
  • To determine the impact of these variants on thyroid hormone and retinol binding protein levels.

Main Methods:

  • Hybrid isoelectric focusing for TTR variant screening.
  • Cyanogen bromide peptide mapping and DNA restriction length polymorphism analysis.

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  • Serum dialysis with stepwise iodothyronine binding site saturation.

    • Main Results:

    • TTR Met 119 variant increases T4 binding to TTR, primarily due to elevated TTR concentration.
    • Increased TTR binding of T4 did not alter free T4 concentrations.
    • Plasma retinol binding protein levels were elevated in carriers of the TTR Met 119 variant.
    • The TTR Asn 90 variant did not affect TTR concentration or hormone binding.

    Conclusions:

    • The TTR Met 119 variant enhances T4 binding by increasing TTR concentration, impacting retinol binding protein levels.
    • The Asn 90 variant appears to have no significant effect on TTR function.
    • Long-term consequences of these TTR mutations and compound heterozygosity require further investigation.