Metabolic and Genetic Studies

What causes Parkinson? We don’t know, but we have learned that in a minority of patients there are genetic abnormalities that can cause loss of dopaminergic cells in the brain leading to Parkinson. Those genes normally produce molecules used by the brain cells to function properly and to produce dopamine. When the genes are mutated, the product of the genes is abnormal or is produced in insufficient amounts, causing suffering and premature death of the cells.

There are many new genes that are being investigated, that can be responsible for the cell changes causing Parkinson. At the NYU Parkinson and Movement Disorders Center we are studying one of the most important genetic abnormalities that has been associated with the development of Parkinson and we are investigating the relationship between Parkinson and Gaucher disease in collaboration with the NYU Neurogenetics Division.

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

NYU has one of the largest Gaucher clinics in the world outside of Israel. We have begun a study to characterize the clinical features of the disease among carriers of b-Gdase mutations and to determine the molecular mechanisms responsible for the development of Parkinson. By understanding how the metabolic dysfunction associated with the mutation affects the function of brain cells we could also gain knowledge of how Parkinson develops in people who are not Gaucher carriers. This could lead to radically new treatments to prevent or delay the progression of the disease.