Väitös (fysiologia): MSc Konrad Patyra


3.2.2023 klo 12.00 - 16.00
MSc Konrad Patyra esittää väitöskirjansa ”Novel molecular mechanisms of thyroid disorders: From human diseases to mouse models” julkisesti tarkastettavaksi Turun yliopistossa perjantaina 3.2.2023 klo 12 (Turun yliopisto, Medisiina D, Alhopuro-auditorio, Kiinamyllynkatu 10, Turku).

Yleisön on mahdollista seurata väitöstä etäyhteyden kautta: https://echo360.org.uk/section/10eb5306-6311-459d-a885-9c3dc8fda329/public (kopioi linkki selaimeen).

Vastaväittäjänä toimii professori Josef Köhrle (Berliinin lääketieteellinen yliopisto Charité, Saksa) ja kustoksena professori Jorma Toppari (Turun yliopisto). Tilaisuus on englanninkielinen. Väitöksen alana on fysiologia.

Väitöskirja yliopiston julkaisuarkistossa: https://urn.fi/URN:ISBN:978-951-29-9111-2 (kopioi linkki selaimeen).


Tiivistelmä väitöstutkimuksesta:

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.