Sruthi Vijayaraghavan

How do the rearrangements of genetic material contribute to the development of Parkinson's disease, and how can these rearrangements be leveraged in gene therapy for treatment?

Started May 20, 2024

Abstract or project description

In the field of neurology, Parkinson's disease (PD) stands out as a significant neurodegenerative disorder that impacts millions worldwide. This project investigates the role of alternative splicing in PD and explores innovative gene therapies as potential treatments/ cures. Alternative splicing, a process where a single gene produces multiple proteins, is common in the brain and contributes to protein diversity essential for neural function. Despite this, alternative splicing can lead to abnormal proteins and neurodegeneration, as seen in PD. Key genes and splicing mechanisms involved in PD include SNCA, PARK2, LRRK2, and SRRM2. Altered splicing patterns in all these genes may contribute to the development of PD. Therapeutic approaches include gene therapy to enhance dopamine production through gene delivery systems, potentially reducing reliance on levodopa. Cell-based therapies involve transplanting fetal dopamine cells or stem cell-derived dopamine neurons to replace lost dopamine-producing cells. Additionally, RNA interference (RNAi) and CRISPR-Cas9 techniques target specific RNA molecules and correct genetic mutations to mitigate disease progression.