MECANISMOS GENÉTICOS DA DOENÇA DE PARKINSON: UMA REVISÃO

ABSTRACT Parkinson’s disease (PD) is one of the most prevalent neurodegenerative disorders worldwide, with a complex etiology involving environmental and, notably, genetic factors. This study aimed to review the main genetic markers associated with PD, focusing on mutations in the SNCA, LRRK2, and GBA genes, as well as emerging variants and potential therapeutic targets. The methodology consisted of a systematic literature review based on publications indexed in the PubMed, BIREME, and SciELO databases. The results showed that SNCA mutations are directly linked to Lewy body formation; LRRK2, particularly the G2019S mutation, is prevalent in various populations; and GBA alterations impair lysosomal function. Additionally, emerging variants such as polymorphisms in the HMGCR gene and multiple genetic interactions detected by the VARI3 algorithm have broadened the understanding of PD and suggest new therapeutic avenues. It is concluded that the genetic approach to PD is essential for early diagnostic strategies and the development of personalized treatments. Keywords: Parkinson’s disease. Genetics. Mutations. SNCA. LRRK2. GBA. Genetic therapy.