Oh, wow

...

when, uh, Philippe Gaucher in France first described a patient, uh, with an enlarged spleen and other bone marrow abnormalities that was thought at that time to be a type of cancer.

But of course, that was 150 years ago.

But the description that he gave to the disease and the combination of symptoms and signs that was later to bear his name, Gaucher disease, was subsequently identified in the 1960s as due to deficiency of glucocerebrosidase.

This is an important lysosomal enzyme.

It is, in terms of Gaucher disease, an autosomal recessive disorder, so biallelic mutations of the GBA1 gene cause Gaucher.

What your opinion is on, on the research priorities in this field? Of all the things that you have mentioned, where do you think that research should start?

Tony Schapira is professor of neurology at UCL.

In our study, we found that there's a very distinctive signature, if you like, of the microbiome bacterial population in Parkinson's disease.

We see this irrespective of whether the person has just been diagnosed or whether they're on drugs or not, so it's very specific for Parkinson's disease.

And what we also found is that a small proportion of the general population have the same signature, and when we look at them very carefully, we can see some of the very earliest signs of Parkinson's disease.

And then finally, we looked at a group of people who carry a gene for Parkinson's disease, and we found the same in them.

So the outcome really is that we found an evolution, if you will, of the microbiome bacterial signature from normal general population through to those genetically at risk a-and finally into those that have the disease.

And the thing I'm gonna follow on with is, well, if you know that, can we change it and change the outcome?

The results from the study suggest that if we can see this signature in a small proportion of people in the general population, we must think that they are at risk, and that is supported by the same finding in those genetically at risk and quite close to the development of the disease.

Paul Henley asked Professor Tony Schapira, who led the research at UCL, why his team focused on the gut.

This GBA gene, which, uh, is the commonest cause of Parkinson's disease, we see it in 10 to 12% of people in the UK with Parkinson's, um, doesn't always cause the disease.

Only about one in five people get the disease, so it must be something else that's going on.

And the microbiome has recently been shown to influence some brain disorders, including Parkinson's to some degree, but, uh, definitive work hadn't been done on it.

So we wondered, is there a particular microbiome signature in the gut that causes the Parkinson's in people that have the gene?

Are we talking about a link between bad gut health, if you can say that, and the disease, or just a certain type of, of gut flora?

We found that those with, as you put it, bad gut health, are much more likely to have this, uh, distinctive Parkinson's signature.

And those with the signature with Parkinson's disease had more severe disease.