What Happens When There are Mutations in the park2 Gene?
Mutations in the park2 gene are linked to autosomal recessive juvenile Parkinson's disease. These mutations can lead to the production of a dysfunctional parkin protein, which impairs its ability to tag damaged proteins and organelles for degradation. Consequently, this results in the accumulation of toxic proteins and damaged mitochondria, contributing to neuronal death and the clinical manifestations of Parkinson's disease.
