New genetic mutation offers clues to early-onset Parkinsonism, say researchers

A team of scientists, led by Prof. Patrik Verstreken from VIB-KU Leuven, has identified a genetic mutation in the SGIP1 gene that may be linked to early-onset Parkinsonism. The discovery was made in a family with a history of young-onset Parkinson’s symptoms. The mutation, which affects brain cell communication, offers new insights into the development of the disease, Kazinform News Agency correspondent reports.

The discovery began with daughters of the Omani family with severe symptoms of Parkinsonism at an early age. Geneticist Dr. Patrick Scott and neurologist Prof. Ramachandiran Nandhagopal identified the mutation, which had not previously been associated with Parkinsonism.

“This is the first time we've seen SGIP1 involved in Parkinsonism, and it gives us a new direction for research,” noted Prof. Patrik Verstreken.

In order to understand the role of this mutation, Prof. Verstreken’s team used fruit flies deficient in the SGIP1 gene, which exhibited movement difficulties and brain cell degeneration. The research revealed that the mutation disrupted synaptic function, leading to defects in protein recycling, which could contribute to the disease.

“This work reinforces the idea that maintaining synapse health is essential for neuron survival throughout life. Our findings highlight the importance of synaptic proteostasis – the balance and quality control of proteins in synapses – in protecting against neurological diseases like Parkinsonism,” said Dr. Marianna Decet, first author of the study.

Research partner Sabine Kuenen underscored the importance of this discovery: “Finding this mutation in the SGIP1 gene is exciting because it provides a fresh perspective on how these neurological disorders develop. It's a reminder that even small changes in our genetic code can have a profound impact on brain function.”

The findings could pave the way for new diagnostic and treatment strategies for Parkinsonism. Prof. Patrik Verstreken also highlighted that further studies will explore the broader impact of this mutation on brain function and potential therapies: “Future studies will be crucial to confirm these findings in other cases and to understand the broader implications of the SGIP1 mutation. Our hope is that by understanding how this mutation disrupts brain cell communication, we can aid the development of new strategies for diagnosing, preventing, and treating Parkinsonism in the future.”