Study reveals new genetic risk for Parkinson’s disease

Parkinson’s disease is a progressive neurodegenerative disorder characterised by tremors, stiffness, slowness, balance issues, and cognitive impairment in advanced stages. It can have many causes, 10-15% of which are genetic. However, only one third of these genetic causes are linked to known genetic mutations.

In the paper, published in Lancet Neurology, the researchers show that a variant in the RAB32 gene is an important risk factor for Parkinson’s disease.

The study involved 16 families of diverse ethnic backgrounds with a history of Parkinson’s. Using DNA sequencing, the researchers identified a common genetic variant linked to the development of the condition. The researchers found that the families – spanning Tunisia, Turkey, Italy, France, Germany, Poland, the UK, Canada and the US – appeared to share a common ancestry.

In people with this genetic variant, Parkinson’s disease develops at around the age of 55. In most cases, tremor is the initial symptom, and Parkinson’s disease onset, clinical variability and progression were found to be consistent with typical late onset of the condition.

Lead author Emil K. Gustavsson PhD (UCL Queen Square Institute of Neurology and UCL Institute of Child Health) said:

“These findings highlight the role of genetic variability within familial Parkinson’s cases. Understanding the molecular intricacies of the disorder is vital for accurate prediction and prevention. This study emphasises the need for further investigation into the global prevalence of the RAB32 variant and the molecular overlap between genes implicated in disease.”

Related

• Read the paper in Lancet Neurology
• Emil K. Gustavsson’s academic profile
• UCL Queen Square Institute of Neurology
• UCL Great Ormond Street Institute of Child Health

Photo by Polina Tankilevitch on Pexels