Molecular mechanisms underlying the diseases resulting from the dysfunction of the ciliary dynein motors

Tuesday 7 February 2023, 2:30 pm
D. Antony MSc.
prof. dr. H.G. Brunner
dr. M. Schmidts

Cilia are hair-like structures projecting from almost all cells in the human body. Motile cilia are required for fluid and particle movement for example in the airways while non-motile cilia function as signaling hubs of the cell. Dynein motors power the movement of motile cilia and in nonmotile cilia, enable protein transport from the tip of the cilia toward the cell body. This research study identified several novel genetic causes underlying motile cilia dysfunction. While the recreation of patient DNA changes causing a non-motile cilia condition with skeletal development defects, allowed the investigation of the molecular mechanisms underlying this condition. Genome- and proteome-wide approaches including cilia-specific proteomics analyses suggest a possible contribution of Golgi dysfunction as well as changes in the actin cytoskeleton.

Dinu Antony (1980) completed Masters in Biotechnology at the University of Madras, India and proceeded to work as a research assistant at University College London. In 2017 she started her Ph.D. at the Department of Human Genetics, Radboud UMC. She is currently working as a postdoctoral fellow at the Institute for Transfusion Medicine and Gene Therapy, University Hospital Freiburg, Germany.