The absence of cilia in human cells results in syndromic diseases known as ciliopathies. They manifest themselves in several ways. The patient may suffer from deafness, blindness, obesity, bone malformations, lung infections, cerebral edema, and even infertility. Scientists then decided tostudy the molecular structure of eyelashes to be able to develop effective treatments against ciliopathies. They quickly realized that eyelashes are built and maintained by the bi-directional movement of 22 different proteins that organize into IFT-A and IFT-B complexes driven by molecular motors.
However, the first structural analyzes cilia failed to reveal the full structure of these IFT proteins. After ten years of research, a team of German researchers has finally found a way to study the molecular structure of eyelashes human cells. Thanks to recent advances in structure prediction, it was able to describe the complete structure of the IFT- complexB.
These works, published in theEMBO Journalwill enable real progress in the management of ciliopathies.
Cilia: important organelles for the cell
The eyelashes provide very important functions for the survival or proper functioning of a cell. These organelles provide eukaryotic cells with motility, sensory reception and intracellular transduction of external stimuli. Structural analysis of IFT proteins is necessary to know the degree of eyelash flexibility and their multiples conformations.
The researchers of Department of Molecular Biology and Genetics of Aarhus University succeeded in discovering the structure of the IFT-B complex in collaboration with those in Odense, Germany and Switzerland. Their work has enabled real progress in the disease control associated with the absence of cilia construction in the cells.
A major advance in the treatment of ciliopathies
Thanks to this work, scientists better understand how do eyelashes work. Ces data notably allowed them to study the biological impact of their dysfunction. This is how the researchers were able map mutations important on the structure of IFT-B at the origin of genetic ciliopathies.
In the long term, the researchers hope develop new drugs to cure or attenuate certain forms of severe and disabling ciliopathies. Diseases such as Bardet-Biedl syndrome, short-ribbed thoracic dysplasia or asphyxiating thoracic dystrophy can be better treated in the future.
SOURCE : PHYS