Gaucher Progress – Parkinson’s Progress … Tony Futerman PhD

How do our studies on Gaucher disease impact our understanding of Parkinson’s disease?

“It is with extreme gratitude that I once again acknowledge the fantastic support of the Children’s Gaucher Research Fund (CGRF) in supporting our work on attempting to understand what is going on in pediatric and childhood forms of Gaucher disease. The CGRF has been my lab’s staunchest supporter for at least 15 years, and progress in the lab would not have been possible without this support.”

It has been quite a while since I last wrote a brief article for the CGRF, and therefore an update is due. We have continued to try to understand how the brain is affected when the GBA gene (the gene which codes for the protein that is defective in Gaucher disease) is mutated. One of our major findings in the last couple of years has been to begin to understand the involvement of the brain’s resident immune cells (known as ‘microglia’) in disease development, and we now have a set of data examining how these critical cells become activated, and moreover, whether there are similarities to other disorders in the same disease family (the so-called lysosomal storage diseases). The bottom line is that there are some similarities and some dissimilarities, which is of significance if microglia were to be targeted as possible new therapeutic approaches.

While work on pediatric forms of Gaucher disease continues full-steam ahead in the lab, we have recently started a comprehensive study of the relationship between Gaucher disease and Parkinson’s disease. One of the most exciting discoveries in the field in the past decade is the genetic connection between the GBA gene and Parkinson’s disease, and while most researchers approach this problem from the perspective of Parkinson’s disease (which is obviously a much better studied disease than Gaucher disease), my lab approaches this issue from the background of Gaucher disease, and from findings that we have made, with CGRF support, on what is going on in the brain in Gaucher disease. It is too early to report on our findings, but I can tell you that we have obtained brain tissue from deceased individuals who suffered from Parkinson’s disease or from Parkinson’s disease with a GBA mutation, and we are in the middle of an unbiased study to see if there are pathological differences between these two tissues. Our preliminary data is super exciting, suggesting major differences – tune-in in the next few months for a further update.

On a more personal note, my laboratory recently moved to a new building on the campus of the Weizmann Institute, the Benoziyo Building for Biological Sciences.  My lab space has increased nearly three times, and we have obtained some additional equipment  and facilities which are of enormous help in our research effort. Thus, we are in a great position to continue our efforts to understand how the brain in affected in certain forms of Gaucher disease, and of great excitement, how this may impact Parkinson’s disease.

Tony Futerman Ph.D.
Department of Biomolecular Sciences
Weizmann Institute of Sciences
Rehovot, Israel