MUSCAT: A research team from Sultan Qaboos University’s College of Medicine and Health Sciences, in collaboration with the VIB Institute at the University of Leuven, Belgium, has identified a genetic mutation linked to early-onset Parkinsonism.
This groundbreaking discovery stemmed from clinical observations made by neurologists at Sultan Qaboos University Hospital while treating two young Omani sisters who exhibited atypical Parkinson’s symptoms. The sisters, in their early twenties, showed rapid progression of the disease along with cognitive and behavioural challenges, which did not respond to standard treatments.
Dr Abdullah bin Rashid al Asmi, Associate Professor and Head of the Neurology Unit, explained that the siblings’ symptoms, coupled with a family history, suggested a genetic basis for the condition. Investigations led by Dr Nandagopal from the Neurology Unit and Dr Scott Patrick from the Genetics Department ruled out known genetic causes of early-onset Parkinsonism, prompting further research.
In collaboration with a team led by Dr Patrick Versisken at the VIB Institute, researchers identified a novel mutation in the SGIP1 gene. Laboratory models using fruit flies confirmed that the SGIP1 mutation disrupts synaptic function, leading to movement disorders and neuronal degeneration similar to Parkinson’s symptoms.
Sabine Koenen, co-researcher and co-author of the study, remarked, “The identification of the SGIP1 mutation opens new pathways for understanding neurological disorders and demonstrates how small genetic changes can have profound impacts on brain function.”
This discovery sheds light on the mechanisms underlying early-onset Parkinsonism and may pave the way for targeted therapies and further exploration into neurodegenerative diseases. — ONA
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