Frameshift Mutation Linked to Early-Onset Parkinson's

In one of these cases of typical Parkinson's, they discovered two separate mutations in the DJ-1 gene. This patient, who was diagnosed with probable Parkinson's disease at age 24 with asymmetric onset and an excellent response to levodopa therapy, had a frameshift mutation in the first coding exon and an exon 7 splice mutation, both predicted to result in a loss of functional protein.

"Showing that a mutation in DJ-1 can cause disease in the absence of a family history is an important point,” explained senior author Dr. Andrew Singleton, a researcher at the Laboratory of Neurogenetics of the National Institute of Aging. "A concept that many scientists as well as laypeople forget is that just because there is no family history does not mean the disease is not genetic.”




Related Links:
National Institute of Aging