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Brains Super Speciality Hospital
Genetic Drivers in Parkinsons Disease

Dr Shan .V Andrews Phd, have published the results of largest genetic investigation on Parkinson’s Disease (PD) among south Asian population. This study was published in Movement Disorders in November 2023. Hither too most of the genetic information on PD was based on genetic information of European population. The studies related to South Asia were very limited by small sample size and other constraints. More genetic influence is seen in young onset or early onset PD that affects people less than 40 years. Recent years have identified several genes associated with PD,I, portent one’s being PRKN group, SNCA group and other variants. However, extensive study identified about 20 genes as causal for PD. PD genome - wide association study ( GWAS) identified 90 independent risk loci.

This is the largest study conducted with an aim to identify genetic risk factors in South Asian populations. Majority of previous studies were dominated by European ancestry. 674 PD people predominantly young onset were studied .This was combined with 1376;ancestry- matched controls profiled through whole genome sequencing from a novel South Asian reference population. This study highlights about 8% of PD pathogenic mutations in already suspected or known PD genes. In addition a new gene BSN whose importance was known was highlighted. There is suggestive evidence of association between BSN and increased risk of PD risk.

BSN encodes “Bassoon” a large synaptic scaffolding protein, that plays a vital role in assembling pre synaptic active zone where exocytosis occur.

This study reiterates the genetic role particularly in young onset PD. We don’t have proper Indian data. It is essential we focus on ethnic and regional and geographic variations for better understanding, risk prediction and to provide personalised treatment in future.

Dr NK Venkataramana