A team of scientists, led by Professor Patrik Verstreken from VIB-KU Leuven, has made an important discovery that could change how we understand and treat early-onset Parkinsonism.
This breakthrough was recently published in Cell Reports Medicine and revolves around a newly identified genetic mutation in a gene called SGIP1.
This mutation could be a key factor in causing a form of Parkinsonism that begins at a young age.
Parkinsonism is a group of neurological disorders that includes Parkinson’s disease and other conditions that have similar symptoms, like difficulty with movement and cognitive decline.
Although Parkinson’s disease is the most well-known, other disorders can mimic its symptoms, making it challenging to diagnose and treat.
This discovery started with an Omani family seeking answers after two young daughters began showing severe symptoms of Parkinsonism.
They turned to neurologist Professor Ramachandiran Nandhagopal and geneticist Dr. Patrick Scott at Sultan Qaboos University Hospital. After a detailed investigation, the doctors identified a mutation in the SGIP1 gene, a gene that had never before been associated with Parkinsonism.
To understand how this mutation leads to Parkinsonism, the research team, including experts from the VIB-KU Leuven Center for Brain & Disease Research, took a closer look at its impact on brain function.
They created a model using fruit flies that lacked the SGIP1 gene. Surprisingly, these flies started to show symptoms similar to Parkinsonism, such as movement difficulties and degeneration of brain cells.
Upon further examination, the researchers found that the mutation in the SGIP1 gene caused significant problems at the synapses—structures in the brain where nerve cells communicate.
These problems included the loss of key structures in the synapses that are responsible for recycling and breaking down proteins.
Without these structures, the brain struggles to maintain healthy communication between cells, leading to the symptoms observed in Parkinsonism.
Dr. Marianna Decet, the study’s first author, explained, “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.”
The discovery of the SGIP1 mutation is a significant step forward in understanding how Parkinsonism develops.
Sabine Kuenen, a research partner and co-author of the study, emphasized the importance of this finding, saying, “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.”
Professor Patrik Verstreken, who led the research, added, “This is the first time we’ve seen SGIP1 involved in Parkinsonism, and it gives us a new direction for research.
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.”
This discovery opens up new possibilities for research and treatment. By studying how the SGIP1 mutation affects the brain, scientists hope to develop better ways to diagnose and treat Parkinsonism, especially in cases where the disease starts early in life.
Although there is still much to learn, this research offers hope that new therapies could one day improve the lives of those affected by this challenging condition.
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Source: KSR.
