Human Thyrocyte Biology and Thyroid Disease

  • Research type

    Research Study

  • Full title

    Characterization of Human Thyrocyte Biology and its defects in Human Thyroid Disease

  • IRAS ID

    259247

  • Contact name

    Nadia Schoenmakers

  • Contact email

    naaa2@cam.ac.uk

  • Sponsor organisation

    Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge

  • Duration of Study in the UK

    5 years, 2 months, 1 days

  • Research summary

    Thyroid hormones are essential for normal growth and brain development during childhood and for maintaining metabolic health and quality of life in adulthood. Thyroid hormone biosynthesis requires development of a normal-sized, normally-located thyroid gland expressing the correct molecular machinery for thyroid hormone production. Circulating thyroid hormones enter cells through designated hormone transporter proteins and may undergo further modifications inside cells before binding specific receptors and exerting their effects.

    Thyroid function may be influenced both by genetic variants affecting key molecules involved in these processes and also by environmental factors such as local micronutrient availability (e.g iodine levels). The Schoenmakers and Chatterjee groups study congenital hypothyroidism (thyroid underactivity from birth), and disorders resulting in impaired thyroid hormone action, e.g resistance to thyroid hormone (RTH) alpha and beta, selenoprotein deficiency disorders and thyroid hormone transport defects. We identify genetic and environmental causes of these disorders in ongoing, ethically-approved clinical studies (e.g. MREC 98/5/024, REC 98/154) and perform laboratory studies to delineate the molecular mechanisms underlying the associated thyroid dysfunction.

    Thyroid biology is highly specialized, therefore our experiments require the use of cells which accurately recapitulate the characteristics of functional human thyroid, such as cultured, or freshly isolated thyroid cells from surgical thyroidectomy specimens. Thyroidectomy (total/partial thyroid removal) is frequently performed at CUH NHS Trust and, since not all the tissue is required for clinical diagnosis, surplus tissue can be used for research without compromising patients' clinical mangement. We wish to recruit children and adults undergoing thyroidectomy who consent to the use of their surplus thyroid tissue in laboratory experiments evaluating the effects of altered gene expression or environment on thyroid function. We will also take blood and urine samples for measurement of thyroid parameters and to screen key genes involved in thyroid function, which may influence our laboratory results.

  • REC name

    South Central - Oxford B Research Ethics Committee

  • REC reference

    21/SC/0158

  • Date of REC Opinion

    2 Jul 2021

  • REC opinion

    Further Information Favourable Opinion