Novel insights confirm pivotal role of synapse in development of Parkinson’s disease

22 March 2017
​Roeland Vanhauwaert and Dr. Sandra-Fausia Soukup and colleagues from the Patrik Verstreken Lab (VIB-KU Leuven) modelled a new Parkinson mutation in fruit flies and in differentiated iPS cells from different patients. This was realized by a mutation in the ‘synaptojanin gene’. The researchers were able to show that this gene is only active at the synapse.

Prof. Patrik Verstreken (VIB-KU Leuven): “This work shows once more that synapses really play a central role in Parkinson’s disease. It is the first pathogenic mutation in a gene coding for a protein that is only active at the synapses. Synaptojanin is active in the same way as the mechanism we previously discovered for LRRK2, another Parkinson’s related protein.”

Publications
Study on Synaptojanin: The SAC1 domain in Synaptojanin is required for autophagosome maturation at presynaptic terminals, Vanhauwaert et al., EMBO Journal 2017

Study on LRRK2: A LRRK2-dependent EndophilinA phosphoswitch is critical for macroautophagy at presynaptic terminals, Soukup et al., Neuron 2016



​Sandra-Fausia Soukup and Roeland Vanhauwaert
VIB-KU Leuven