Are Gaucher Disease and Parkinsons Linked?

Simon Heales, Ph.D.

At the 14th Annual WORLDSymposium, Simon Heales, Ph.D., Professor of Clinical Oncology at the Great Ormond Street Children's Hospital in London presented data exploring a potential link between the lysosomal storage disorder Gaucher disease and Parkinsons disease.

In this video, he sits down with Rare Disease Report to discuss the data he released and what's next for him and his team of researchers.

Heales: The interest we have is coming from the fact that the neurotransmitter, dopamine, is deficient in patients with Parkinson’s disease. And, therefore, if Gaucher disease is a risk factor for developing Parkinson’s disease, it makes sense to look at the Dopamine levels. We’ve developed a subculture model system and I presented work showing that in that system when you have compromised lysosomal function at the level of the enzyme missing in Gaucher disease, you actually disrupt the cells ability to metabolize dopamine. So, the hypothesis we are generating is that the fate of the lysosomal may lead downstream to failure of dopamine levels and that is a contributing factor. That’s the key neurotransmitter missing in Parkinson’s and the other little spin to the story is that mitochondria seem to be involved as well.

Mitochondria are thought of as the powerhouse of the cell. For many years, we have known that there’s a deficiency in mitochondria patients in Parkinson’s and actually it seems that these two, the lysosome and the mitochondria have an influence over each other. If you impair one of them, it has an effect on the other one and actually, either/or can cause a deficiency in dopamine. It’s sort of coming together in our mind that loss of lysosomal function and loss of mitochondrial function leads ultimately to the failure of the dopamine pathway, and that’s a contributing factor to Parkinson’s. That’s in a nutshell. In science, the story is never finished because I think we are right at the very start of a very interesting area for us to work in. We have now demonstrated that if you impair, say, the lysosome or the mitochondria, or both, you have an effect on the ability of the cell to metabolize dopamine so we know that there is an association. We don’t know the exact mechanisms. And we are using a cell culture model. Now we have to take that further and find the methodology, use more sophisticated techniques to look at more neuronal like cells to get a much more deeper understanding to what is actually the metabolic sequence of events or chain of events. 


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