{"id":4414,"date":"2024-04-11T13:20:39","date_gmt":"2024-04-11T11:20:39","guid":{"rendered":"https:\/\/www.uni.lu\/lcsb-en\/?post_type=news&p=4414"},"modified":"2024-08-08T11:35:58","modified_gmt":"2024-08-08T09:35:58","slug":"genetics-of-parkinsons-disease-in-luxembourg","status":"publish","type":"news","link":"https:\/\/www.uni.lu\/lcsb-en\/news\/genetics-of-parkinsons-disease-in-luxembourg\/","title":{"rendered":"The genetics of Parkinson\u2019s disease in Luxembourg"},"content":{"rendered":"\n
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To mark World Parkinson’s Day 2024, let\u2019s put the spotlight on research carried out in Luxembourg to unravel the genetic basis of the disease.<\/p>\n\n\n\n

Parkinson’s disease affects more than 10 million people worldwide, making it the second most common neurodegenerative disorder after Alzheimer’s. Within Western societies, Parkinson\u2019s is the fastest growing neurodegenerative disease and the number of cases is expected to double by 2050, placing an increasing burden on healthcare systems worldwide.<\/span><\/p>\n\n\n\n

More than 30% of Parkinson’s cases are known to have a genetic contribution, however only a few are the result of a single mutation. This means that the majority of cases are classified as idiopathic: the disease is likely caused by a combination of several genetic and environmental factors. Researchers at the National Centre for Excellence in Research on Parkinson’s Disease<\/a> (NCER-PD), together with national and international collaborators, are tirelessly working towards identifying these complex underlying causes.<\/p>\n\n\n

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\n \n \n The National Centre of Excellence in Research on Parkinson’s Disease <\/span>\n\n <\/use><\/svg> <\/button>\n <\/h3>\n
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NCER-PD is a research programme that brings together the main biomedical research institutes in Luxembourg: the Luxembourg Centre for Systems Biomedicine<\/a> (LCSB) of the University of Luxembourg, the Luxembourg Institute of Health<\/a> (LIH) and the Centre Hospitalier de Luxembourg<\/a> (CHL), in collaboration with the Laboratoire National de Sant\u00e9<\/a> (LNS). NCER-PD aims to advance the understanding of Parkinson’s disease in order to improve the diagnosis and treatment. The participation of people with different forms of Parkinson’s disease and an equal number of healthy controls in Luxembourg and the Greater Region is central to the programme.<\/p>\n <\/div>\n <\/div>\n<\/div><\/div>\n\n\n

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\nThe genetic make-up of Parkinson\u2019s disease in Luxembourg<\/strong><\/h5>\n\n\n\n

Looking more closely at the genetic underpinnings of the disease is one of the many approaches the researchers are taking to achieve this goal. After years of collecting samples from more than 2000 participants of the Luxembourg Parkinson’s Study, including people with Parkinson’s and healthy controls, the NCER-PD team has now analysed the complete genetic make-up of most of them.<\/p>\n\n\n\n

“Such genetic analyses are essential to define subgroups within people with Parkinson\u2019s disease. It allows us to look closely at already known genetic risk factors but also to detect new variants that might influence the onset or progression of the disease,” explains Prof. Rejko Kr\u00fcger<\/a>, coordinator of NCER-PD. “With this first large-scale genetic screening conducted in Luxembourg, we identified a major genetic cause explaining more than 12% of Parkinson\u2019s cases in the country, providing new avenues for clinical trials and prevention,” he adds.<\/p>\n\n\n\n

\nDetecting genetic variations through DNA screening<\/strong><\/strong><\/h5>\n\n\n\n

To detect genetic mutations linked to the disease, the DNA from blood samples donated by study participants was analysed. The DNA was extracted from the samples and amplified through several rounds of PCR (see box). This amplified DNA was then applied to a chip with thousands of microscopic wells, each containing short pieces of synthetic DNA. The amplified DNA bound to these short pieces and the application of fluorescent labels allowed researchers to discover single variations in the donors genetic code by simply observing the fluorescent light signal of each well<\/span>.<\/p>\n\n\n

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\n \n \n DNA amplification <\/span>\n\n <\/use><\/svg> <\/button>\n <\/h3>\n
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DNA is amplified in a process called polymerase chain reaction or PCR for short. It consists of multiple rounds of copying of DNA, resulting in an exponential accumulation of DNA molecules from a tiny sample. Applications of PCR include biomedical research, pathogen detection in medicine and food safety, and criminal forensics.<\/p>\n <\/div>\n <\/div>\n<\/div><\/div>\n\n\n

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Using the data from this genetic analysis, NCER-PD researchers found that the percentage of people within the cohort harbouring rare genetic variants that could be linked to Parkinson’s disease is similar to what has been reported in other European countries.<\/span>

The researchers were also able to confirm that, in addition to the known high-risk single gene variants, several small genetic mutations that are trivial on their own can jointly result in a significantly higher risk for the onset of the disease when they accumulate. How the disease develops from such an accumulation of genetic mutations and how this process can be prevented is the subject of further research.<\/p>\n\n\n\n