Parkinson’s GBA genetic study

gba studyWhat is the GBA gene and how is it related to Parkinson’s disease?

Some genes play a role in the development of Parkinson’s disease (PD). Scientists have identified mutations in one particular gene, the Beta-Glucocerebrosidase or GBA gene, which are strongly linked to PD. The GBA gene contains instructions to produce a protein that helps your cells break down certain fats. If the GBA gene is mutated, the protein does not function correctly. This can have toxic effects on your brain cells that produce dopamine, and may lead to the development of PD.

Who has GBA mutations?

Because genes are passed from generation to generation, individuals with a family history of PD and individuals from particular ethnic backgrounds are more likely to have PD associated with known genetic mutations. Although GBA mutations may occur at random in families of any ethnic background, individuals with Ashkenazi Jewish or North African heritage are more likely to have GBA mutations.

Should I find out if I have a GBA mutation?

Finding out if you have a mutation in the GBA gene can give you and your neurologist more insight into your Parkinson’s disease. You may be eligible to participate in drug trials that target patients with PD associated with GBA mutations.

However, there are some risks in finding out if you have a GBA mutation:

  • Genetic information is unique to you, and may be used to identify you. Although we will protect your identity by labeling your samples and information with a code, the main risk of allowing us to store and use your samples is a potential loss of privacy.
  • If you carry the GBA gene mutation, you will learn that your relatives are also at risk for developing PD or other diseases associated with GBA mutations, such as Gaucher’s disease.
  • If you have a GBA mutation, your genetic status may be placed in your medical record. It is possible that if health insurance companies find out about your GBA mutation, they may deny certain types of coverage to you and your family members. Life insurance companies might deny you insurance, too.

Do I have to find out my genetic status to participate in the study?

Yes. If you do not want to know your genetic status, you should not participate in this study. If you do choose to participate, a genetic counselor will explain your results and counsel you further.


Please contact the study coordinator at 617.726.4923 or Dr. Anne-Marie Wills at 617.643.2643.