Dissertation defence (Physiology): MSc Konrad Patyra

MSc Konrad Patyra defends his dissertation in Physiology entitled “Novel molecular mechanisms of thyroid disorders: From human diseases to mouse models” at the University of Turku on 3 February 2023 at 12pm. (University of Turku, Medisiina D, Alhopuro auditorium, Kiinamyllynkatu 10, Turku).

Opponent: Professor Josef Köhrle (Institute of Experimental Endocrinology, Charité – Berlin University of Medicine, Germany)
Custos: Professor Jorma Toppari (University of Turku)

The audience can participate in the defence by remote access: https://echo360.org.uk/section/10eb5306-6311-459d-a885-9c3dc8fda329/public (copy the link to the browser).

Digital copy of the thesis at UTUPub: https://urn.fi/URN:ISBN:978-951-29-9111-2 (copy the link to the browser).


Summary of the Doctoral Dissertation:

In his doctoral study, MSc Konrad Patyra examined genetics and molecular mechanisms of thyroid disorders in Finnish patient cohort, and thyroid disease models. Together with his group, he generated new screening tools and models to identify and evaluate new genetic variants in the pathogenesis of thyroid diseases. Main findings of his thesis were the identification of novel pathogenic mutations in newborns with congenital thyroid diseases and new insights of thyroid stimulating hormone receptor signaling in the pathogenesis of thyroid tumors and adrenal function. The performed studies will help to understand thyroid pathogenesis and specifically the genetic etiology of congenital hypothyroid diseases.

Thyroid gland secrets thyroid hormones, which are important molecules involved specifically in regulation of growth, development, and metabolism. Thyroid hormones interact with virtually every cell in human body and their underproduction – defined as hypothyroidism or overproduction – hyperthyroidism, leads to serious consequence especially in newborns who are rapidly developing.

It is critical to understand the and etiology (origin) of thyroid diseases and to identify them as soon as it is possible to introduce proper treatment to prevent irreversible health consequences. In our study, we focused on developing a screening gene panel to understand the genetic etiology of congenital hypothyroidism. We have identified known and novel genetic mutations in patients with congenital thyroid diseases and analyzed some of them in more detail.

To study thyroid disorders, in more details, we developed novel mouse models for hypothyroidism. Our pharmacologically induced Gas KO mouse model in which the most important protein involved in proper thyroid physiology is deleted, helped to understand the consequences of hypothyroidism and identified important aspects regarding signaling as well as tumor formation in the thyroid gland.

Furthermore, our unexpected finding in mice initiated a project which aimed to find a link between thyroid and adrenal gland, which was so far not extensively studied. We found that thyroid hormones regulate adrenal development in animal models. We decided to expand the study and we analyzed clinical data from patients diagnosed with congenital hypothyroidism and premature adrenarche, a situation when adrenal gland matures earlier than it should. Our data found a possible link between those two disorders and updated the current knowledge gap in the field.

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