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New Genetic Variant Linked to Parkinson’s Disease Discovered by Scientists

Context:

Scientists have identified a new genetic variant associated with Parkinson’s disease. This discovery provides insights into the evolutionary origins of various familial forms of parkinsonism and lays the groundwork for a better understanding and treatment of the condition.

Relevance:

GS III: Science and Technology

Dimensions of the Article:

  1. Parkinson’s Disease: An Overview
  2. Recent Advancements in Understanding Parkinson’s Disease

Parkinson’s Disease: An Overview

Definition and Background:

  • Parkinson’s disease (PD) is a progressive neurodegenerative disorder affecting movement, which can lead to immobility and dementia.
  • While the disease typically affects older individuals, younger people can also be diagnosed. Men are more commonly affected than women.
  • Over the past 25 years, the global prevalence of PD has doubled, with India accounting for approximately 10% of the global burden.

Causes and Pathophysiology:

  • The exact cause remains unknown, but it is thought to result from a combination of genetic and environmental factors.
  • Parkinson’s is characterized by the loss of dopamine-producing neurons in the brain, causing both motor and non-motor symptoms.

Symptoms:

  • Motor Symptoms: Slow movement (bradykinesia), tremors, muscle rigidity, and difficulties with walking and balance.
  • Non-Motor Symptoms: Cognitive impairments, mental health issues, sleep disturbances, pain, and sensory problems.

Treatment:

  • While there is no cure for Parkinson’s, various therapies can help manage and reduce symptoms.
  • The most common medication prescribed is a combination of levodopa and carbidopa, which increases dopamine levels in the brain.
  • Other treatments include surgical procedures like deep brain stimulation and rehabilitative therapies.

World Parkinson’s Day:

  • Observed annually on 11th April, World Parkinson’s Day aims to raise global awareness and understanding of the disease.

Recent Advancements in Understanding Parkinson’s Disease:

Genetic Research:

  • Geneticists and neuroscientists are delving into genetic variations to gain a better understanding of Parkinson’s disease.

Linkage Analysis:

  • Focuses on studying rare families with inherited parkinsonism to identify gene mutations associated with the disease.
  • A recent breakthrough identified a new genetic variant, RAB32 Ser71Arg, which is linked to Parkinson’s across multiple families worldwide.

Genome-wide Association Studies (GWAS):

  • Compares genetic data from Parkinson’s patients with that of healthy individuals to identify genomic locations and genes potentially related to the risk of Parkinson’s.
  • GWAS has identified over 92 genomic locations and 350 genes that may be associated with Parkinson’s risk.

-Source: The Hindu


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