Muscat – A research team from Sultan Qaboos University Hospital (SQUH), in collaboration with VIB-KU Leuven Center for Brain & Disease Research of Belgium, has identified a new genetic mutation associated with early-onset Parkinson’s disease.

The finding emerged during the treatment of two Omani sisters who exhibited rapid disease progression and poor response to conventional treatments.

Dr Abdullah bin Rashid al Asmi, Associate Professor and Head of Neurology at College of Medicine and Health Sciences at SQUH, informed that the sisters, who visited the Neurology Clinic 14 years ago in their early 20s, presented symptoms typical of Parkinson’s alongside behavioural and mental challenges. Notably, one sister had a history of epileptic seizures prior to developing Parkinson’s symptoms.

Investigations revealed that the sisters’ condition stemmed from a first-degree marriage. Extensive investigations into known genetic causes of early-onset Parkinson’s were inconclusive prompting a search for new genetic factors.

Collaborating with Dr Patrick Versisken at VIB-KU Leuven, the team successfully identified a mutation in SGIP1 – a gene not previously linked to Parkinson’s – in both sisters. This mutation impacts the communication between brain cells, shedding light on the mechanisms underlying the development of early Parkinson’s and potential treatment avenues.

To explore the effects of the SGIP1 mutation, researchers developed a laboratory model using fruit flies deficient in the gene. These flies exhibited Parkinson’s-like symptoms, including movement disorders and neuronal degeneration, highlighting the mutation’s role in disrupting neuronal connections essential for healthy brain function.

Underscoring the importance of this discovery, Sabine Koenen, a co-author of the study, said, “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.”

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