Glucocerebrosidase activity


#1
http://www.ncbi.nlm.nih.gov/pubmed/23297226

Interesting. Increasing glucocerebrosidase activity seems to be effective; not only for people with GBA gene, but also for the others.

As far as I understood each cell has a lysosome in which garbage is stored and later on chopped by this enzyme. People who carry a mutation in the GBA gene, have a lack of glucocerebrosidase activity, meaning the garbage doesn't get removed. This leads alpha synuclein to misfold which leads to parkinson's disease.

Amicus therapeutics is working on chaperones to increase glucocerebrosidase activity. I wonder whether there is some gene therapy in the pipeline that can overexpress the glucocerebrosidase enzyme ...

#2
Interesting, MisterX. Thanks. Reading the paper, they say that people with PD are found to have lower glucocerebrosidase activity without a mutation in the GCB gene. The alpha-syn accumulation inhibits the GCB enzyme, which in turn decreases clearance of alpha-syn and so on....
Given that the authors are Genzyme, one presumes there is a good chance the work will be followed up.

#3
what i find extremely interesting is that functionality is recovered - does that imply that the neuron are not dead but only resting? that makes a lot of difference obviously!