A team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset Parkinsonism.
Vlaams Instituut voor BiotechnologieSep 26 2024 A team of scientists led by Prof. Patrik Verstreken has identified a new genetic mutation that may cause a form of early-onset Parkinsonism. The mutation, located in a gene called SGIP1, was discovered in an Arab family with a history of Parkinson's symptoms that began at a young age.
The discovery began when an Omani family, whose two daughters developed severe Parkinsonism at a young age, sought answers from their neurologist Prof. Ramachandiran Nandhagopal and geneticist Dr. Patrick Scott at the Sultan Qaboos University Hospital. This led to the identification of a mutation in the SGIP1 gene, a gene not previously linked to Parkinsonism.
Further analysis showed that key structures in the synapses, responsible for recycling and breaking down proteins, were missing. This disruption suggests that the SGIP1 mutation interferes with the brain's ability to maintain healthy synapses, which may play a significant role in the development of Parkinsonism.
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Scientists discover mutation linked to early-onset ParkinsonismA team of scientists led by Prof. Patrik Verstreken (VIB-KU Leuven) has identified a new genetic mutation that may cause a form of early-onset Parkinsonism. The research has been published in Cell Reports Medicine.
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