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