Researchers Discover Genetic Mutation Linked to Rare Diseases in French-Canadians

According to a story from McGill University, a group of Canadian researchers have discovered a mutation in the French-Canadian population that is linked to diseases including multiple system atrophy, Parkinson’s disease, and dementia with Lewy-Bodies. All of these illnesses are classified as synucleinopathies. The mutation was located on the GBA gene.

The French-Canadian Connection

The researchers found that this “founder” mutation, on its own, only creates a minor risk of developing these diseases, but when other mutations are compounded with it, the possibility of getting these diseases becomes much greater. The GBA mutation is specific to the French-Canadian population and was most likely passed down from a single ancestral individual. However, if you are of French-Canadian descent, you still probably don’t have anything to really worry about. After all, only about one percent of this population actually carries it.

Gaucher’s Disease Combo

Another interesting characteristic of the GBA mutation is that when combined with another mutation inherited from both parents, the affected person will present with Gaucher’s disease, a type of lysosomal storage disease that is not directly related to the synucleinopathies. Researchers are planning to continue with more analysis in order to determine the exact prevalence of these mutations. Knowledge of the mutation is important because of its connection to Gaucher’s disease, and couples that are interested in having children can choose to get tested for it.

About The Study

In order to make these new discoveries, the study involved a large participant population that included 436 Parkinson’s disease patients, 189 patients with REM-sleep behavior disorder (which is connected to synucleinopathies). In addition a group of 891 people were used as a control group during the research. All of the disease patients in this study were of French-Canadian ancestry. 

The Impact of Ancestry

The discovery is just one example of a certain mutation being more prevalent in a specific regional or cultural population of people that share common ancestry. Another more well known example are the Ashkenazi Jews, a large ethnic group that comprises millions of people across the world and has been widely studied in medicine. They tend to carry a variety of mutations that make them more susceptible to rare diseases in comparison to the average population, including some variants that are almost never found in people outside of the group.

Check out the original study here.

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