A global collaboration of researchers has found a specific gene change is a risk factor for Parkinson’s unique to the Black African community.
Parkinson’s affects around 145,000 people in the UK, of all ages, genders and ethnicities. But the majority of Parkinson’s research has only included people from white European backgrounds.
This means that what we know about Parkinson’s does not reflect everybody with the condition. Meaning that there could be clues, symptoms, or risk factors that we are currently not aware of, so can’t look for.
To help address this, a global collaboration of researchers from Nigeria, the UK and the US, developed a study that would look specifically at the DNA of people of African descent.
The research team analysed genetic information from over 200,000 people of African descent, to look for any patterns which could be linked to an increased risk of developing Parkinson’s.
They found that a variation, sometimes called a mutation, in a gene called GBA1, was unique to people of African descent. This mutation was found in more than 3 in 10 people with Parkinson’s assessed in the study.
GBA1 is a gene that is already linked to Parkinson’s. It contains the information to make a protein called GCase, which is known to help clear away waste products that have gathered in brain cells. In Parkinson’s, a build up of a troublesome protein called alpha-synuclein is often seen in the brain tissue. It’s possible that changes to the GBA1 gene might mean that the cell can’t clear away this alpha-synuclein waste, leading to damage.
Studies looking at GCase in the past have paved the way for new potential treatments for Parkinson’s. In January 2023, we announced we would be co-funding a phase 3 study looking at ambroxol, a component of a cough medicine. It’s thought that ambroxol may help improve the body’s ability to clear away these clumps of alpha-synuclein and prevent damage to brain cells.
Why is this important?
While there are no treatments that currently target this specific GBA1 mutation, this study shows how crucial it is that everyone is represented in Parkinson’s research.
The link between the GBA1 gene and Parkinson's was first discovered 20 years ago. But until now, we did not know that people with Parkinson's of African descent may have a subtle difference in this gene to people of white European heritage.
This discovery adds to our understanding of the condition, and could be important for developing new treatments. It also highlights that there may be other crucial missing pieces of information yet to be discovered in populations who have been excluded from research.
We need to make sure that people of all backgrounds and ethnicities are involved in research right from the start to make sure we don't miss vital information that will help us develop better treatments, care and services for everyone living with the condition.
Becky Jones, Research Communications Manager at Parkinson’s UK, said:
"This study is a great example of why we need more diversity in Parkinson’s research. Our Race Equality in Research project is helping to find new ways to improve this, by understanding barriers that prevent research from being accessible to everyone, and working on ways to overcome these barriers.
"We look forward to more breakthroughs like this as research continues to become more representative of everyone."
We need you
We need people from the Black African community to share their experiences with us and help make sure everyone is represented in Parkinson’s research