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Wide-reaching implications of recent research into GBA
Original article: Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson’s disease Molecular Neurodegeneration: 2019
The takeaway
Why is it important?
%
IMPACT
- Novelty 80%
- Proximity 80%
- Deliverability 70%
Impact Opinion
Background
Although a very small number of people with Parkinson’s carry a mutation in the GBA gene, the current study asked whether dysfunction in GBA pathways may also be detected in those without the genetic mutation. In other words, could GBA-related cellular dysfunction feature centrally in idiopathic Parkinson’s?
The details
The researchers found significant GCase activity reductions were associated with Parkinson’s but also with ageing, as its activity was lower in brain tissue samples from older individuals. They also found that compared to unaffected controls, there was a build-up of harmful GSLs, but also a reduction in specific gangliosides (which are complex GSLs essential for normal brain function) in the CSF and blood samples from people with Parkinson’s as well as RBD.
Next steps
Related work and trials
https://www.cureparkinsons.org.uk/ambroxol-the-facts
https://www.cureparkinsons.org.uk/News/ambroxol-like-drug-for-pd
Where can I learn more?
https://www.parkinsonsmovement.com/parkinsons-subtypes/