[Parkinson's disease associated with a mutation in the glucocerebrosidase gene]

Parkinson's disease (PD) is one of the most socially significant neurodegenerative disorders due to its high prevalence and progressive nature. The key link in PD pathogenesis is the accumulation of the pathological alpha-synuclein. However, neuroinflammation, oxidative stress, mitochondrial dysfunction, and dysregulation of the brain-gut-microbiome axis also contribute significantly to the development of the disease. The etiology of PD remains controversial. This review of modern medical literature, covering domestic and foreign papers, summarizes recent studies on GBA1 gene mutations in PD patients. It showed that the prevalence of GBA1 gene mutations varies by geographical location. In addition, mutations in the GBA1 gene potentiate alpha-synuclein accumulation, lysosomal and mitochondrial dysfunction, and affect neuroinflammation in PD. The mechanisms of action of modern targeted therapies for PD associated with GBA1 gene mutations are described.