Genomic Insights in Parkinson’s Disease: A Reviews

Abstract

Parkinson’s disease is a neurological condition that affects 8.5 million individuals worldwide and is characterised by tremors, slower movements, loss of balance, and stiffness. Over the last decade, progress in genomic research on complicated diseases has increased rapidly and emerged as a potent means of understanding the pathogenesis of Parkinson’s disease. Parkinson’s disease has both familial and sporadic genetic forms, with rare mutations and monogenic variants linked to disease risk. Common variations, like SNCA, MAPT, and HLA, increase the probability of developing the disease, highlighting the complex interaction between inherited variables and disease pathogenesis. Novel PD risk loci and genes have been reported through genomic investigations, particularly genome-wide association studies (GWAS), creating a path for precision medicine techniques along with targeted therapeutics. Polygenic risk scores (PRS) are used to assess risk, allowing for early intervention and individualised care for those who are at risk. This review aims to offer a thorough analysis of the functions of genomics in Parkinson’s disease, comprising its genetic architecture, genomic studies for determining the genetic components that influence PD risk and pathophysiology, implications for risk assessment, diagnosis using various novel biomarkers, therapeutic advances, research gaps, challenges such as heterogenicity, underdiagnosis, adverse effects of medicines and future directions along with the additional research in these fields may pave the path for cutting-edge treatment and diagnostic approaches that eventually improve the lives of people with Parkinson’s disease (PD).