Six new genetic risk factors for Parkinson’s found

 

Scientists have identified more than two dozen genetic risk factors involved in Parkinson’s disease, including six that had not been previously reported. Unravelling the genetic underpinnings of Parkinson’s is vital to understanding the multiple mechanisms involved in this complex disease, and hopefully, may one day lead to effective therapies,’ said Andrew Singleton, a scientist at the US National Institutes of Health’s National Institute on Aging (NIA) and senior author of the study. 

Singleton and his colleagues collected and combined data from existing genome-wide association studies (GWAS), which allow scientists to find common variants, or subtle differences, in the genetic codes of large groups of individuals.  The combined data included approximately 13,708 Parkinson’s disease cases and 95,282 controls, all of European ancestry. The investigators identified potential genetic risk variants, which increase the chances that a person may develop Parkinson’s disease.  (Read: Yoga to help you live with Parkinson’s disease)

Their results suggested that the more variants a person has, the greater the risk, up to three times higher, for developing the disorder in some cases. The researchers confirmed the results in another sample of subjects, including 5,353 patients and 5,551 controls. By comparing the genetic regions to sequences on a state-of-the-art gene chip called NeuroX, the researchers confirmed that 24 variants represent genetic risk factors for Parkinson’s disease, including six variants that had not been previously identified. (Read: World Parkinson’s Day 2014: Diet and nutrition tips for Parkinson’s patients)

The NeuroX gene chip contains the codes of approximately 24,000 common genetic variants thought to be associated with a broad spectrum of neurodegenerative disorders. Some of the newly identified genetic risk factors are thought to be involved with Gaucher’s disease, regulating inflammation and the nerve cell chemical messenger dopamine as well as alpha-synuclein, a protein that has been shown to accumulate in the brains of some cases of Parkinson’s disease.  (Read: World Parkinson’s Day 2014: 10 facts about Parkinson’s disease)

The study was published in the journal Nature Genetics.

What is parkinson’s?

Parkinson’s disease is a neurodegenerative disorder and affects nerve cells which are responsible for motor functions of the body. Parkinson’s patients have difficulty in carrying out movements at a normal speed. Hence, they take longer to perform even normal day-to-day activities. Apart from slowness in their body, Parkinson’s patients’ limbs tend to be either stiff or shake uncontrollably. Other non-motor symptoms like pain, sleep disturbances, irregular bowel movements, fainting spells, depression, anxiety, fatigue and memory problems also occur. There is no cure for the disease but medications and surgery can provide some relief.

What causes Parkinson’s disease?

People with Parkinson’s disease suffer loss of nerve cells in the brain that are responsible for releasing a brain chemical or neurotransmitter called dopamine. Dopamine is a signalling chemical required for coordination and control of body movements. Once the neurons start dying, the production of dopamine is reduced causing loss of movement control and coordination in people suffering from the condition. But what exactly triggers death of those neurons is still a mystery. Scientists have found out several genes that were responsible for causing the disease in some cases.

Large population studies have indicated that people who have a family member or a relative suffering from the disease have a higher chance of developing the condition themselves. However, this is just an observation and further research on the inheritance aspect of Parkinson’s disease is underway. Read more about Parkinson’s disease – Causes, symptoms, diagnosis and treatment

With inputs from PTI

Photo source: Getty images

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