New mutation linked to early-onset Parkinsonism

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On Sept. 26. 2024, a team of scientists led by Prof. Patrik Verstreken at the VIB-KU Leuven Center for Brain & Disease Research announced they had 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 study revealed that this mutation affects how brain cells communicate, providing new insights into the disease’s development and potential treatment strategies. 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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Source: VIB-KU Leuven Center for Brain & Disease Research
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