Genes associated with Parkinson’s Disease

As research has expanded in the area of Parkinson’s genetics, we have been able to uncover a number of genes which have been linked to an increased risk of developing Parkinson’s.

The majority of Parkinson’s cases are called idiopathic - this simply means that there is no known cause of the disease. However, about 10% of Parkinson’s diagnoses are linked to a genetic cause. We believe that by understanding how certain genes can contribute to the development of Parkinson’s, we will be able to develop new treatments which target specific biochemical pathways.

Glucocerebrosidase (GBA1)

Since the 1990s, researchers have been interested in the link between mutations in the glucocerebrosidase (GBA1) gene and Parkinson’s Disease. Everyone has two copies of every gene – one is inherited from the mother and one is inherited from the father. Inheriting two mutated copies of the GBA1 gene results in a rare genetic condition called Gaucher Disease. The discovery of an increase in cases of Parkinson’s Disease amongst Gaucher patients led to research interests focusing on the GBA1 gene.

It has since been found that around 10-15% of people with Parkinson’s carry a mutation in the GBA1 gene. In populations who are known to be more likely to carry the GBA1 gene, such as those from the Ashkenazi Jewish community, it is estimated that around 25% of people with Parkinson’s carry a GBA1 gene change.

We believe that the link between GBA1 and Parkinson’s could provide essential clues as to why some people develop Parkinson’s and others do not. Although there is a slightly higher chance of developing Parkinson’s in later life if you are a carrier of a GBA1 gene, this risk is still very low and most people will not go on to develop Parkinson’s.

Exploring the link between GBA1 and Parkinson’s has allowed researchers to understand a great deal more about how Parkinson’s develops and how we might be able to develop new drugs to slow the progression of symptoms. We therefore hope to involve as many people who carry a GBA1 gene variant as possible in our research, as with their participation we will be able to develop a much fuller understanding of how GBA1 impacts the development of Parkinson’s in certain individuals.

Leucine-rich repeat kinase 2 (LRRK2)

The link between LRRK2 and Parkinson’s Disease was first described in 2002, and LRRK2 mutations are believed to be a major cause of inherited and sporadic Parkinson’s.

For people from certain ethnic backgrounds, such as Ashkenazi Jewish, North African Berbers and Basque, LRRK2 mutations account for a much higher number of Parkinson’s cases than that of the general population. The most widely found mutation (G2019S), is thought to account for 15-20% of cases in Ashkenazi Jews.

Although LRRK2 gene mutations are very rare (less than 1% of those in the Ashkenazi community and less than 0.01% of the general UK population), those who possess the LRRK2 gene mutation have a 40% chance of developing Parkinson’s by the age of 80.

We therefore believe that by identifying people with Parkinson’s who carry a LRRK2 gene mutation and enrolling them in specific studies and clinical trials, we will be able to understand to a better extent how LRRK2 mutations can result in the development of Parkinson’s in certain individuals.

If you know you are a carrier of a LRRK2 mutation and have been diagnosed with Parkinson’s, your participation in research could have a significant impact on the development of new drugs to slow or even stop the progression of Parkinson’s.