Novel Variants Linked to the Prodromal Stage of Parkinson’s Disease (PD) Patients

• DOI: 10.3390/diagnostics14090929
• Publication Date: 2024-05-02T15:39:42Z
• Authors: Marwa T. Badawy; Aya A. Salama; Mohamed Salama
• Keywords: Hyposmia; Prodromal Stage

Background and objective: The symptoms of most neurodegenerative diseases, including Parkinson’s disease (PD), usually do not occur until substantial neuronal loss occurs. This makes the process early diagnosis very challenging. Hence, this research used variant call format (VCF) analysis to detect variants novel genes that could be as prognostic indicators in prodromal PD. Materials Methods: Data were obtained from Progression Markers Initiative (PPMI), we analyzed patients with gVCF data collected 2021 cohort. A total 304 participants included, 100 healthy controls, 146 genetic individuals, 21 hyposmia 37 individuals RBD. pipeline was developed samples reach annotation pathway association analysis. Results: Novel percentages detected subgroups. subgroup revealed variations 1.0%, 1.2%, 0.6%, 0.3%, 0.5%, 0.4% for male, female, RBD female groups, respectively. Interestingly, 12 potentially loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300, PPP6R2) recently PD stage Conclusions: Genetic biomarkers are crucial detection its stage. aid use gene without relying only on phenotypic traits.