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A study conducted by genomics company MedGenome and the Parkinsons 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 characterized 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 the lack of comprehensive data on Parkinson’s disease in India prompted the research.
In recent years, the scientific community’s understanding of Parkinson’s disease has taken a leap forward, with genetics playing a critical role in unfolding this complex neurological disorder. A groundbreaking study published in Molecular Psychiatry has provided a new perspective, identifying a genetic mutation in mitochondrial DNA that provides a potent protective effect against Parkinson’s disease. This breakthrough not only unlocks new possibilities in understanding the disease but also paves the way for potential therapeutic interventions.
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.
The genetic mutation discovered alters the structure of a mitochondrial protein, small humanin-like peptide 2 (SHLP2). This alteration makes the protein more stable, leading to a higher rate of expression. The SHLP2 protein plays a crucial role by binding to an enzyme known as mitochondrial complex 1, a key regulator of metabolism. The protective variant of SHLP2 significantly impacts the likelihood of developing Parkinson’s disease, reducing the risk by a staggering 50%.
This study sheds light on the genetic landscape of Parkinson’s disease in the Indian population and provides valuable insights that could potentially lead to improved diagnostics, personalized treatment approaches, and the development of targeted therapies for YOPD. The identification of these genetic variations not only advances understanding of the disease but also highlights the importance of conducting region-specific studies to comprehend the genetic underpinnings of neurological disorders within diverse populations.
