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With the presence of this genetic variant, a two-fold increased risk of Parkinson’s disease is seen in the Chinese population.
Doctors and researchers at National Neuroscience Institute (NNI), Singapore General Hospital (SGH) and Genome Institute of Singapore (GIS), in collaboration with centers from Taiwan and Netherlands, have found a genetic variant (of a gene called LRRK2) which is associated with a two-fold increased risk of Parkinson’s disease in Chinese population in Singapore. Similar findings were demonstrated in a Taiwan study. Parkinson’s disease is caused by a degeneration of a structure of the brain called the substantia nigra, resulting in a lack of a neurotransmitter called dopamine. Parkinson’s disease is the second most common neurodegenerative disease globally, and manifests by tremor, stiffness and poor balance.
Mutations in the leucine-rich repeat kinase 2 (LRRK2) is the most frequent known cause of autosomal dominant form of Parkinson’s disease. However, this is the first time ever that a common genetic risk factor has been so extensively and consistently associated with Parkinson’s disease patients without a family history in different populations. These recent major findings have been validated by numerous groups in Asia and the NNI study was extensively cited at the recent 10th International Congress of Parkinson’s Disease and Movement Disorders held in Japan.
Investigators at NNI and Clinical Research Department at SGH were the first to provide data that this particular risk variant was associated with increased neuronal death only under cellular stresses in human cell-culture studies. This may provide a partial explanation why some individuals with the risk variant develop the disease while others do not. The presence of other epigenetic factors, gene-gene and gene-environmental interaction could also influence the development of disease. Thus far, this genetic variant is completely absent in Caucasians, suggesting the different genetic heritage of the Chinese population. In Singapore, about 85% of an approximate 1,500 PD patients seen annually by NNI at SGH and Tan Tock Seng Hospital are Chinese.
With this exciting discovery, NNI, GIS and various research and clinical institutions across Singapore and leading centers in the US plan to work together to translate this important biomarker in the laboratory to the bedside for the benefit of our patients.
Dr Tan Eng-King, senior consultant neurologist at NNI-SGH who is heading this study, says, "With the increasing ageing population in Singapore, the number of people with Parkinson's disease will rise, and as with many other medical conditions, Parkinson’s disease currently does not have a cure. We should approach this discovery with cautious optimism while waiting for more scientific data to emerge. However, the similar magnitude of the risk association with this variant amongst Chinese populations in different countries is highly unusual and suggests that we may be dealing with an authentic genetic biomarker of the disease. Potentially, this discovery can help clinicians to detect and monitor individuals who are at-risk to developing Parkinson’s disease in the future, and to develop neuroprotective therapies to prevent or slow down the disease process."
NNI Selected as a Center of Excellence in the Care and Research in Parkinson’s Disease
In recognition of its efforts towards clinical care and research in Parkinson’s disease, the National Neuroscience Institute has been selected as one of the 11 international NPF Centers of Excellence in the world outside the United States and the only center of excellence in Asia. The designation was awarded by the American National Parkinson Foundation (NPF).
The NPF, based in the United States, is the largest organization in the world serving persons affected by Parkinson’s disease. The NPF Centers of Excellence are awarded to healthcare institutions that meet the criteria for excellence in Parkinson-related research, comprehensive care, and community outreach. An international panel which made up the independent NPF Center Review Board, has chosen NNI because of its strengths in the provision of comprehensive ‘best-in-class’ clinical care to Parkinson’s disease patients, in having a well-developed basic and clinical research programme, and in the ability to set the ‘gold standard’ for care, outreach, and research into Parkinson’s disease. These achievements were made possible by the dedicated multi-disciplinary team of doctors, research scientists, nurse clinicians, therapists, dieticians, and social workers, through a unique partnership between NNI and two major hospitals in Singapore – Singapore General Hospital and Tan Tock Seng Hospital. The NNI sees more than 1,500 Parkinson’s disease patients a year, with international referrals from regional countries to the Middle East and countries in the West. NNI runs a well-coordinated research programme from basic science to clinical and translational research, which aims to unravel the etiopathogenesis and disease profile of Parkinson’s disease.
To reach out to the community, NNI works closely with the Parkinson’s Disease Society of Singapore in organizing a series of public forums, symposiums, and workshops to raise the public awareness of the disease. NNI is also one of the main movers in the founding of the Asian and Oceanian Section of the International Movement Disorder Society (AOS-MDS) and is honoured to be selected as a host for the inaugural Asian and Oceanian Parkinson’s Disease and Movement Disorders Congress (AOPMC) in Singapore in October next year. | |
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