Characterization of ATP10B R303W as a Novel Pathogenic Mutation in Parkinson's Disease

This study established ATP10B R303W as a novel pathogenic associated mutation with PD. We demonstrated that ATP10B R303W disrupted mitochondrial and lysosomal functions, increasing cytosolic and membrane-bound alpha-synuclein while reducing its secretion and phagocytosis. These findings directly linked the ATP10B dysfunctions to alpha-synuclein dynamics, contributing to PD pathology. The familial nature of this mutation underscored its relevance in hereditary PD. Future studies should target ATP10B to restore cellular homeostasis and mitigate alpha-synuclein aggregation.