New mutation associated with Parkinson’s Disease: p.Trp378Gly in the GBA gene
Parkinson’s disease manifests itself by difficulties with speech, muscle rigidity, tremors and is caused by many genetic factors, including inherited mutations which raise the risk of illness. A new mutation called p.Trp378Gly in the GBA gene has been found to disrupt the normal function of the gene products which are essential for a long life without Parkinson’s disease.
The mutation was detected in 1% of French Canadian patients who have Parkinson’s disease or REM-sleep behaviour disorder. Single p.Trp378Gly is not significant to influence the risk of developing the disease. However, the inheritance of p.Trp378Gly along with other mutations known to have a function in Parkinson’s disease is substantially increasing the risk.
More on the mutation: “The GBA p.Trp378Gly mutation is a probable French‐Canadian founder mutation causing Gaucher disease and synucleinopathies” J. A. Ruskey et al., 2018, Clinical Genetics, doi.org/10.1111/cge.13405.