News Health World Parkinson's Day 2023: What is the role of genetics in this disease

World Parkinson's Day 2023: What is the role of genetics in this disease

Early diagnosis of Parkinson's disease is important because it can help patients to receive prompt treatment and manage their symptoms more effectively.

World Parkinson's Day 2023 Image Source : FREEPIKWorld Parkinson's Day 2023

World Parkinson's Day 2023: Parkinson's disease (PD) is a prevalent neurological condition that results in sleep difficulties, depression, motor slowness, and quiet tremors.  Parkinson's disease includes tremors or shaking, stiffness or rigidity of the limbs and trunk, bradykinesia or slowness of movement, and postural instability or difficulty with balance and coordination. Other symptoms may include changes in speech and writing, difficulty with fine motor skills, and non-motor symptoms such as depression, anxiety, and sleep disturbances. The symptoms of Parkinson's disease typically develop gradually over time and can vary from person to person.

In most cases, the disease is caused by a combination of genetic and environmental factors. However, in rare cases, Parkinson's disease can be caused by specific genetic mutations that can be passed down through families. While genetics can play a role in the development of Parkinson's disease, it is not typically considered a hereditary disease.

Several genes have been found to be linked to an increased risk of Parkinson's disease. LRRK2 and GBA gene mutations are the most often found genetic changes linked to Parkinson's disease. The SNCA gene, which makes the protein alpha-synuclein, is also linked to an elevated risk of Parkinson's disease. The PARK2 and PINK1 genes, which are involved in mitochondrial function, and the PARK7 gene, which is important in preventing oxidative stress in cells, are other genes that have been connected to Parkinson's disease.

There are tests available that can accurately identify people who have an elevated risk of getting PD. This test can detect mutations in the LRRK2 gene. The test uses a combination of DNA sequencing and other genetic analysis techniques to identify the specific mutations in the LRRK2 gene that are associated with PD. The effectiveness of this test is excellent because it has been demonstrated to reliably identify LRRK2 mutations in people with PD who have a family history of the disease or who were first diagnosed as children.

Early diagnosis of Parkinson's disease is important because it can help patients to receive prompt treatment and manage their symptoms more effectively. Early treatment with medications can slow the progression of the disease and improve quality of life. Early diagnosis can allow for individuals to make lifestyle changes and engage in physical therapy and exercise to improve motor symptoms.

 

(This article is attributed to Dr. Bhushan Joshi, Consultant Neurology, Manipal Hospital, Kharadi- Pune)

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