Metabolic & Genetic Studies

What causes Parkinson?

We don’t know, but we have learned that in aminority of patients there are genetic abnormalities.

These genetic abnormalities can causeloss of dopaminergic cells in the brain leading to Parkinson. Thosegenes normally produce molecules used by the brain cells to functionproperly and to produce dopamine. When the genes are mutated, theproduct of the genes is abnormal or is produced in insufficientamounts, causing suffering and premature death of the cells.

Thereare many new genes that are being investigated, that can be responsiblefor the cell changes causing Parkinson. At the NYU Parkinson andMovement Disorders Center we are studying one of the most importantgenetic abnormalities that has been associated with the development ofParkinson and we are investigating the relationship between Parkinsonand Gaucher disease in collaboration with the NYU NeurogeneticsDivision.

Gaucher

Gaucher is a genetic disorder affectingmostly children and adults of Ashkenazi Jewish descent. Until recently,Gaucher carriers were considered asymptomatic, but recent populationstudies among Ashkenazi Jews have demonstrated that the risk ofdeveloping Parkinson is significantly higher among healthy carriers ofthe Gaucher mutations (β-glucocerebrosidase mutations or b-Gdase).

NYUhas one of the largest Gaucher clinics in the world outside of Israel.We have begun a study to characterize the clinical features of thedisease among carriers of b-Gdase mutations and to determine themolecular mechanisms responsible for the development of Parkinson. Byunderstanding how the metabolic dysfunction associated with themutation affects the function of brain cells we could also gainknowledge of how Parkinson develops in people who are not Gauchercarriers. This could lead to radically new treatments to prevent ordelay the progression of the disease.