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Related Experiment Videos

[Recent advance in the thyroid testing with special reference to the gene analysis]

T Ieiri1, A Hishinuma

  • 1Department of Clinical Pathology/Laboratory Medicine, Dokkyo University School of Medicine, Tochigi.

Rinsho Byori. the Japanese Journal of Clinical Pathology
|December 30, 1998
PubMed
Summary

Thyroglobulin (Tg) mutations disrupt its intracellular transport, leading to ER storage diseases. This study reviews Tg synthesis and related genetic defects in thyroid function.

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Area of Science:

  • Biochemistry
  • Molecular Biology
  • Genetics

Context:

  • Thyroglobulin (Tg) is a crucial glycoprotein synthesized by thyroid follicular cells.
  • Its synthesis involves complex intracellular processing, including folding, glycosylation, dimerization, and transport.
  • Defects in Tg synthesis or transport can lead to thyroid dysfunction.

Purpose:

  • To review recent advancements in understanding Thyroglobulin (Tg) synthesis mechanisms.
  • To highlight the role of molecular chaperones in Tg synthesis.
  • To discuss the impact of specific Tg mutations (C1263R, C1995S) on intracellular transport and the resulting ER storage disease (ERSD).

Summary:

  • Recent findings demonstrate that Tg mutations C1263R and C1995S impair intracellular Tg transport, causing ER storage disease (ERSD).

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  • ERSD serves as a model for defects in de novo protein transport, not only in the thyroid but also in other organs.
  • The review also examines genetic abnormalities in other key thyroid proteins, including thyroid peroxidase, Na/I symporter, TSH receptor, and transcription factors TTF-1, TTF-2, and PAX 8.

    • Impact:

    • Provides insights into the molecular mechanisms underlying Thyroglobulin (Tg) synthesis and intracellular trafficking.
    • Establishes Tg gene mutations as a model for studying ER storage diseases (ERSD).
    • Broadens the understanding of genetic factors contributing to thyroid diseases beyond Tg, encompassing other essential thyroid-related genes.