Representative image of DNA mutation
Credit: iStock photo
Udbhavi Balakrishna, Bengaluru, DHNS (BYLINE)
A study conducted by genomics company MedGenome and the Parkinson's Research Alliance of India (PRAI) has uncovered both common and rare genetic variations linked to Young Onset Parkinson's disease (YOPD) within the Indian population.
Parkinson’s disease is a progressive neurological disorder characterised by tremors, stiffness, slow movement, involuntary movements, and speech difficulties.
People developing Parkinson’s before the age of 40 or 50 are diagnosed with YOPD.
Dr Prashanth LK, the principal investigator at PRAI, explained that lack of comprehensive data on Parkinson’s disease in India prompted the research.
"Indian patients tend to experience the onset of Parkinson’s disease at a younger age compared to Western populations. While the average onset age in Western countries is around 60 years, in India, it occurs almost a decade earlier,” he stated.
Dr Prashanth noted that people with YOPD are more likely to exhibit genetic forms of the disease, which drove the focus of the study.
The Genetics of PAN-India Young Onset Parkinson Disease (GOPI-YOPD) project enlisted 1,000 patients from 10 specialised movement disorder centres and neurology clinics across the country. Its objective was to identify genetic risk factors associated with YOPD in the Indian context, thereby enhancing the researchers’ understanding of the disease's genetic underpinnings.
Published in the Movement Disorders Journal, the study builds upon a pilot study previously featured in the Advanced Biology Journal in July 2022.
Given that Parkinson’s disease involves various gene mutations and is not attributed to a single gene, researchers utilised a polygenic risk score (PRS) test to gauge the likelihood of developing the disease based on one’s genetic makeup, Dr Prashanth said.
"Gene mutations dictate the age of disease onset, the predominant symptom types, progression rates, and response to different therapies,” he added.
In addition to corroborating existing findings from Western populations, the study unearthed a rare mutation specific to South Asia in the GBA gene, not observed in other demographic groups.
Dr Vedam Ramprasad, CEO of MedGenome, said the revelations would enable "systematic genetic evaluations" for the timely prevention and management of various diseases. Such insights could empower clinicians to offer early interventions and tailor treatment strategies effectively.