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
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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 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.
Related work and trials