A new study conducted by MedGenome, a genomics-led research and diagnostics company, in association with Parkinson’s Research Alliance of India (PRAI), has found that rare genetic variations along with common variants derived through polygenic risk score (PRS) can detect Young Onset of Parkinson’s Disease (YOPD).
The study, published in Movement Disorders, the official journal of the International Parkinson and Movement Disorder Society, has validated the existing knowledge of the disease along with new findings on the genetics of Parkinson’s disease.
According to a press release from the company, a pilot study was published through the collaboration with PRAI in the July 2022 edition of Advanced Biology, a peer-reviewed interdisciplinary biology journal with 100 whole genomes of Parkinson’s disease patients.
This is a first of a kind study conducted in India aimed to initiate a population-based genetic analysis of YOPD in the Indian population. The Genetics of PAN-India Young Onset Parkinson Disease (GOPI-YOPD), a multicentre Pan India project- recruited 674 patients through a network of 10 specialty Movement Disorder Centers/Neurology clinics across India over a two-year period.
Genetic mutations
The study validates existing findings from European populations and identifies major genetic mutations in genes, which is not seen in other populations. The study aggregates the common genetic variations into a polygenic risk score (PD-PRS), introducing a genetic screening test for assessing the risk of developing Parkinson’s disease, the release said.
“This comprehensive analysis of rare and common genetic variations in YOPD in the Indian population enhances the understanding of the genetic basis of Parkinson’s disease and introduces a novel genetic screening approach to assess disease risk,” the release pointed out.
The genomic analysis for the study was done at MedGenome Labs using MedGenome’s SARGAM array (South Asian Research Genotyping Array for Medicine), which has curated content from a proprietary database of 2.5 million variants unique to the South Asian population which is not available in any publicly available genetic database.
Neurological disorder
One of the authors - Rupam Borgohain, PRAI Secretary and Chairman, Parkinson’s Disease and Movement Disorders Research Centre (PDMDRC), Citi Neuro Centre, Hyderabad said, “Parkinson’s disease is a common neurological disorder causing tremors, slowness of movement, stiffness and walking difficulties in most. It is caused by a complex interaction between external environmental and familial or genetic factors.”
“Based on the initiative of Prashanth L.K., Specialist in Movement disorders, Parkinson’s disease and Movement Disorders clinic in Bengaluru, a first of its kind- India wide registry of Young Onset Parkinson’s Disease (disease starting at age less than 50 years) was started by PRAI... Parkinson’s disease with onset less than 20 years (juvenile PD), 20-40 years (young onset PD) and 40-50 years (early onset PD) have different clinical features. The role of genetic factors seems to be higher in these patients compared to older age,” Prof. Borgohain pointed out.
