INVERTEBRATE MODEL SYSTEM TO STUDY FAMILIAL DYSAUTONOMIA

The IKAP gene, when mutated, causes Familial Dysautonomia (FD) in humans. This neurodegenerative disorder is inevitably fatal. FD causes 1/3800 live births in Ashkenazi Jewish population. It is still unclear how the IKAP gene causes the complex pathologies leading to the death of the patients. The reason is because the real function in the nervous system of IKAP is unknown. It would be of eminent importance to have an animal model system in which FD can be studied. We have established such a model by using the nematode Caenorhabditis elegans. This model system offers potent genetic tools and has led to important discoveries in various fields of research concerning human diseases. The reason why C. elegans is an optimal system to study FD is due to the fact that the IKAP gene also exists and functions (like in human) in the neuronal system. This is the ideal starting point to study IKAP using this model.