Project Details
Projekt
THRA deficiency and Allan-Herndon-Dudley-Syndrome: Defects of local TH function during human brain development (P06)
Subject Area
Pediatric and Adolescent Medicine
Term
from 2020 to 2024
Project identifier
Deutsche Forschungsgemeinschaft (DFG) - Project number 424957847
Local TH action in the brain can be disturbed by mutations in either local transport (MCT8) or receptor proteins (THRA). This project strives to increase the diagnostic yield for both defects by using the serum fT3/fT4-ratio as a more sophisticated screening parameter. Furthermore, we will explore how both genes are regulated on the genomic level. This will enable us to identify i) patients with non-coding mutations, and ii) patients with milder phenotypes presenting only with a subset of symptoms seen in “classic” MCT8 and THRA deficiencies.
DFG Programme
CRC/Transregios
Subproject of
TRR 296:
Local control of TH action (LocoTact)
Applicant Institution
Universität Duisburg-Essen
