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Multi-Centre Global Study Identifies New Asian Genetic Factors for Parkinson’s Disease
Singapore research team discover two new gene loci in Asians that contribute to increased risk of Parkinson’s Disease.

Parkinson’s Disease (PD) is a common age related neurodegenerative disorder that affects three out of every 1,000 people above the age of 50 in Singapore. This is just the tip of the iceberg as 30 percent of our general population also exhibit mild parkinsonism.

The team led by National Neuroscience Institute (NNI), Nanyang Technological University, Singapore’s (NTU) Lee Kong Chian School of Medicine (LKCMedicine), and the Genome Institute of Singapore (GIS), conducted a genetic-association study of over 30,000 participants from various Asian populations. These include participants from Singapore, Malaysia, Hong Kong, Taiwan, mainland China and South Korea.

PD was diagnosed using UK Parkinson’s Disease Society Brain Bank Criteria. The team identified 11 significant loci and two out of these gene loci (SV2C and WBSCR17) are newly identified as genetic risk factors for PD.

The SV2C gene in particular was found to be associated with PD for both Asian and Caucasian populations. This gene is expressed on the vesicles of brain cells responsible for the production of dopamine – a chemical found to be deficient in PD patients. It was also shown that knockout of the SV2C gene in mouse models resulted in reduced synaptic release of dopamine, affecting motor functions.

The WBSCR17 gene on the other hand was found by the Singapore team to be specific to the Asian population. It has been found to encode a protein that possibly plays a role in cell membrane trafficking.

First author of the study, Assistant Professor Foo Jia Nee from NTU’s LKCMedicine shared that the team’s discovery of the two genes linked to Parkinson’s have never been identified before.

“Our findings will provide new insights into the biology underlying Parkinson’s Disease. The SV2C gene is particularly interesting as studies have shown that it is related to traits related to Parkinson’s Disease, making it a potential drug target that requires further investigation.” Said Assistant Professor Foo Jia Nee.

As the largest PD study of its kind in Asia, the study also involved collaborators form the United States, UK, Europe and Japan who collected samples from more than one million participants.

The findings from this study provide possibilities of new methods of prevention, diagnosis and treatment of PD in Asian populations.

Using the findings, the team is now working towards the development of a genetic diagnostic kit to identify those from Asian populations who are at risk of developing PD. Enabling advance diagnosis and identifying risk status to allow early interventions such as behavioural therapy and development of drugs to begin. This could slow the progression of the disease, improving the quality of lives for people with PD.

Professor Tan Eng King, Deputy Medical Director and Senior Consultant, Department of Neurology at NNI highlighted that as the Singapore population ages, the incidence of Parkinson’s disease and parkinsonism will increase. He suggested that “this new insight into the Asian genome is a step towards identifying healthy individuals at high risk of Parkinson’s Disease and developing potential new drugs to treat the condition.”

 

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