Genetics and Parkinson's

Approximately 15% of people with Parkinson have a family history of the condition. About 10-20% of Parkinson’s cases can be accounted for by genetic variations that infer a higher risk of developing the condition. In people with ‘early-onset’ Parkinson’s, this means they were diagnosed under the age 40, genetic variations can account for the majority of cases, while in later onset cases the frequency of genetic variations is more variable.

Small genetic variations in a region of DNA called the GBA gene are linked with an increased risk of developing Parkinson’s. The GBA gene provides instructions for making an enzyme called GCase which enables cells to dispose of waste materials.

Individuals with Parkinson’s who carry a fault in their GBA gene generally have low levels of GCase function, so researchers have been trying to identify medicines that can enhance the level and activity of GCase thereby slowing the progression of Parkinson’s.

Genetic variations within the LRRK2 gene are recognised as being some of the most common with regards to increasing a person’s risk of developing Parkinson’s – LRRK2 variants are present in approximately 1-2% of all cases of Parkinson’s.

Importantly, understanding what the connections are between Parkinson’s and the underlying genetics can help us to further comprehend how the condition develops and progresses, and how we can treat it and ultimately cure it.

There are now a number of clinical trials testing drugs in people with Parkinson’s who also have certain gene mutations.