Glucocerebrosidase (also known as GCase) is an enzyme that helps to break down and recycle old proteins and waste within cells. The enzyme is located inside lysosomes, which are small bags of digestive enzymes. Lysosomes represent an important component of the waste disposal system of cells, and disruption of lysosomal function has been associated with many types of neurodegenerative diseases. The GCase enzyme is made from instructions provided by a region of DNA called the GBA-1 gene.

Variations in the GBA-1 gene represent one of the most common genetic risk factors associated with Parkinson’s. Individuals who are diagnosed with Parkinson’s and also carry a GBA-1 variant in their DNA typically have an earlier onset of symptoms and a faster progressing form of the condition (although this can vary between cases). Researchers refer to this form of the condition as GBA-associated Parkinson’s, and given the assumed underlying involvement of the Glucocerebrosidase (GCase) enzyme, a lot of research is now focused on this molecule.

It is estimated that as many as seven to ten percent of people living with Parkinson’s carry at least one GBA-1 mutation.

Why is GBA-associated Parkinson’s such an important target?

If you have met one person with Parkinson’s, you have only met one form of this disease as each person presents with their own combination of symptoms and side effects.  Recently though  a better understanding of the genetics underlying some cases of Parkinson’s has pointed towards certain aspects of biology that can be targeted in our hunt for better treatment. It has also allowed us to propose different sub-types of Parkinson’s that we may be better able to treat with new therapeutics.

GBA-associated Parkinson’s represents one of these potential sub-types of Parkinson’s, and numerous treatment approaches are now being tested on this group of the Parkinson’s community. If one of these novel therapies allows us to slow or halt the progression of GBA-associated Parkinson’s, it will provide proof that a targeted approach can be applied to the disease and encourage further research into other subtypes.

Latest updates

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The AIM-PD trial (ambroxol)

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