Genetic Links to ‘Young-Onset Parkinson's Disease’ Among Indians

Highlights:

The prevalence of Young-Onset Parkinson’s Disease (YOPD) is higher in the Indian population compared to the Western population
The GBA gene mutation, exclusive to the South Asian population, has been associated with YOPD
This underscores the importance of region-specific, personalized treatments and early interventions for Parkinson's disease

Parkinson's disease is a progressively debilitating movement disorder affecting the nervous system, with symptoms such as tremors, stiffness, slow movement, involuntary movements, and difficulty in speaking. The Young Onset Parkinson's Disease (YOPD) variant, which manifests before the age of 40 or 50, poses unique challenges.

A pioneering study conducted by genomics company MedGenome in collaboration with the Parkinson's Research Alliance of India (PRAI) has shed light on the genetic variations associated with YOPD in the Indian population. The results were published in Movement Disorders Journal ().

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Parkinson's disease (PD) is a chronic and progressive nervous system disorder that results in a gradual loss of muscle control. It has an impact on the body's ability to control movement.

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Mapping Genetic Links to Young-Onset Parkinson’s Disease

The study was prompted by the scarcity of data on Parkinsons disease in India, prompting researchers to delve into the unique aspects of the disease presentation in the Indian demographic. Dr. Prashanth LK, the principal investigator at PRAI, highlighted the earlier onset of Parkinson's in India compared to Western countries, motivating the need for a comprehensive study focused on genetic factors contributing to YOPD.

The Genetics of PAN-India Young Onset Parkinson Disease (GOPI-YOPD) project recruited 1,000 patients from 10 specialized movement disorder centers and neurology clinics across India. The primary objective was to identify genetic risk factors associated with YOPD in the Indian context. The study aimed to enhance the understanding of the genetic basis of the disease and contribute to global knowledge on Parkinsons genetics.

Did You Know?

YOPD affects about four percent of the one million people with PD.

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Slide animation on Parkinson disease. It is a progressive movement disorder due to degeneration of nerve cells of the substantia nigra of the brain. The symptoms get worse with time but drugs or surgery can control them. PD cannot be cured.

South Asia-Specific Mutations Tied to Early Onset Parkinson's in India

Indian patients experience the onset of Parkinson's disease at a slightly younger age compared to Western populations. While the average age of onset in Western countries is around 60 years, in India, it occurs nearly a decade earlier.

Given the complex nature of Parkinson's disease, which is not attributed to a single gene, researchers employed a polygenic risk score (PRS) test. This test is designed to detect the likelihood of developing a disease based on an individual's genetic profile.

Dr. Prashanth emphasized that gene mutations play a crucial role in determining the age of disease onset, the prominence of symptoms, the rate of progression, and the response to different therapeutic interventions.

The study not only validated existing findings from Western populations but also unearthed a rare South Asia-specific mutation in the GBA gene, not observed in other populations. This discovery emphasizes the importance of region-specific genetic studies to uncover nuances that might be overlooked in broader genetic analyses.

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Implications for Clinical Practice

Dr. Vedam Ramprasad, CEO of MedGenome, highlighted the significance of these findings for "systematic genetic evaluations." The identified genetic variations can enable clinicians to provide timely preventive measures and management strategies.

Early interventions and tailored treatment plans guided by a patient's genetic makeup can significantly impact the progression of the disease and improve the overall quality of care.

In summary, the genetic landscape of Young-Onset Parkinson's Disease in India marks a significant step forward in understanding the complexities of this debilitating condition. The findings not only contribute to global knowledge on Parkinson's genetics but also offer practical implications for clinicians in India, paving the way for more targeted and effective interventions for YOPD patients.

Reference:

Genetics of Parkinson’s in India - Young Onset Parkinson’s Disease (Gopi-yopd) : Genetics of Juvenile, Young, and Early Onset Parkinson’s Disease - (https://www.movementdisordersclinic.com/genetics-of-parkinsons-in-india-young-onset-parkinsons-disease-gopi-yopd-genetics-of-juvenile-young-and-early-onset-parkinsons-disease/)

Source-Medindia

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