Sree Chitra to prepare India's first-ever genetic architecture of Parkinson's Disease

SCTIMST to prepare India's first-ever genetic architecture of Parkinson's Disease
File Photo: SCTIMST campus

Sree Chitra Tirunal Institute for Medical Sciences and Technology (SCTIMST) will lead the first-ever study in the country to detect DNA changes that lead to Parkinson's Disease (PD).

This study to prepare the “genetic architecture of Parkinson's Disease” will be an Indo-German research programme. Partnering SCTIMST will be Centre for Genetic Epidemiology, University of Tuebingen, Germany. 20,000 people from across the country, half with Parkinson's and half healthy, will be recruited for the study.

The Indo-German collaborative research has also received $2.3 million (nearly Rs 17 crore) from the world's biggest foundation dedicated to a cure for Parkinson's disease, the Michael J Fox Foundation (MJFF) for Parkinson's Research, USA. The MJFF fund was won on the basis of a project report submitted by Dr Manu Sharma of the University of Tubingen, Germany and Professor Asha Kishore, Movement Disorders Specialist and Director of  SCTIMST.

It is also for the first time that the MJFF is spreading its research beyond Europe; the Foundation is now simultaneously funding research in East Asia and Africa, too. It is a known fact that most genetic studies related to Parkinson's were limited to people of European descent. 

“While the field has made significant strides in genetic research, we know we have much more to learn about the changes in DNA that lead to Parkinson’s disease and impact its progression,” said MJFF Senior Vice President of Research Programs Brian Fiske, in the MJFF website.

The study is called Genome-Wide Association Study (GWAS), which is the generic term for the spotting of genetic variants in different individuals to see if any variant is associated with any particular disease. In short, the study will scout for a fancy or an out-of-the-ordinary nucleotide (the basic building block) within the DNA of individuals selected for the study, both Parkinson's-affected and healthy. 

The objective is to establish a link between the freak nucleotide and Parkinson's. Once the link is confirmed, therapies can be developed accordingly. Result: treatment for Parkinson's could turn highly personalised in the near future.

Scientists had identified the first genetic mutation associated with Parkinson’s in 1997 and have since found more than 90 genetic differences, or "known risk loci", that had pushed up the disease risk to varying degrees. By closely learning these microscopic abnormalities, researchers hope to understand how they impact individual cells causing Parkinson's. 

Though the study will be led by the SCTIMST and the University of Tubingen, Germany, a consortium of Movement Disorder specialists, neurologists and geneticists from 20 Indian centres are co-investigators in the multicentre international study. 

While SCTIMST will be the lead Nodal centre in India, AIIMS New Delhi, NIMHANS Bangalore and Nizams Institute of Medical Sciences, Hyderabad will participate as Nodal Centres. 

“The aim of this research is to identify genetic risk factors of PD in India through a GWAS. Approximately a half-million genetic markers will be assessed to identify the Indian PD population-specific risk variants. To meet our objectives, more than 10,000 PD patients and 10,000 healthy controls will be recruited from across India to define a pan-Indian PD map for the Indian population,” an official SCTIMST release said.

PD is a disabling and progressive degenerative neurological disease with a prevalence of about one per cent in people over 60 years and 4 per cent in people over the age of 85. “A clear hereditary cause of PD is found only in 5-10 per cent of patients. In the remaining, it is considered sporadic and probably caused by an interaction of genetic susceptibility and environmental factors,” the SCTIMST release said.

About six genes are known to cause a hereditary form of PD and there may be several others yet to be identified in different populations including the Indian population. PD is caused by the death of brain cells in specific regions of the brain leading to tremulousness of hands, stiffness of the body, slow movements, poor balance and a variety of other symptoms unrelated to movement. 

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