Muscat – The discovery was prompted by observations from doctors at the Neurology Unit of the Department of Internal Medicine at the College and University Hospital (University Medical City), during the treatment of two Omani sisters, both in their early twenties at the time.

The doctors noticed that the sisters did not respond to traditional treatments and showed rapid development of the disease within a short period

Dr. Abdullah bin Rashid Al-Asmi, head of the Neurology Unit, shared that the sisters had been evaluated approximately fourteen years ago, revealing not only Parkinsonian symptoms but also behavioural and mental health challenges. One sister had a history of epileptic seizures prior to developing Parkinson’s symptoms.
The sisters were found to be a product of a first-degree marriage, with no familial history of similar illnesses in their parents. This raised suspicions among the medical team regarding a recessive genetic neurodegenerative disorder. Despite thorough investigations into known genetic causes of early-onset Parkinson’s disease by Dr. Nandagopal and Dr. Scott Patrick, no existing links were found, necessitating a search for new genetic factors.

Collaborating with the VIB Institute, the research team, led by Dr. Patrick Versisken, discovered a mutation in the SGIP1 gene in both sisters. This mutation was shown to impair communication between brain cells, offering new insights into the disease’s development and potential treatment avenues.

To further investigate the effects of the SGIP1 mutation, researchers created a laboratory model using fruit flies lacking the SGIP1 gene. These flies displayed Parkinsonism-related symptoms, including movement disorders and neuronal degeneration. Detailed analysis revealed that the mutation compromised synaptic structures, which are critical for cell signalling, and disrupted the brain’s ability to maintain healthy synapses.

“This discovery provides a new understanding of how neurological disorders develop,” remarked Sabine Koenen, a researcher involved in the study. It highlights that even minor changes in the genetic code can significantly impact brain function.