By studying the genetic causes of Parkinson’s disease, a multidisciplinary research team has identified a new combination of compounds that could provide access to new treatments.
Old Man Walking
Characterized by a progressive loss of motor control and other motor symptoms such as tremors due to the degeneration of dopamine-producing neurons, Parkinson’s disease is considered a multifactorial disease that is closely related to environmental factors. However, there are 5% of genetic forms are due to mutations affecting certain genes, in particular the PARK7 gene.
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A new interdisciplinary work led by Professor Rejko Krüger of the Center for Systemic Biomedicine (LCSB) of the University of Luxembourg has investigated the genetic causes of Parkinson’s disease. It is being published in the journal Science Translational Medicine and could soon lead to new treatment methods.
A key protein for the onset of the disease
The researchers first identified the crucial role of a protein called DJ-1 for the maintenance of nerve cell function: if the body is unable to produce large quantities of DJ-1, important nerve cells die. The result is the development of neurodegenerative diseases such as Parkinson’s disease. The production of important proteins such as DJ-1 can be interrupted or permanently stopped if the genetic blueprints or the production processes they code for are faulty.
For the first time, the research team has succeeded in identifying the significance of a fault in the production process for the development of Parkinson’s disease. “This discovery fundamentally changes our view of the causes of the disease and opens up completely new treatment options,” says Dr. Ibrahim Boussaad, LCSB scientist and first author of the scientific paper.
The combination of two compounds as a possible treatment
The second important part of the research was to work on stem cells. The researchers recruited 800 healthy control persons from whom they took skin cells.
These epithelial cells were reprogrammed in vitro into nerve cells, similar to nerve cells affected by Parkinson’s disease. This method enabled the research team to explain the cause of the genetic form of Parkinson’s disease, in which the PARK7 gene is mutated.
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The final phase of the work consisted of using algorithms to search for active ingredients that enable the production of the DJ-1 protein. Thus, two substances were identified: phenyl butyric acid and RECTAS (RECTifier of Aberrant Splicing). Administered in combination, these two substances enable the cells in the test tube to effectively reactivate the production of the DJ-1 protein.
A seven-year preliminary work was made possible by a multidisciplinary approach. “Only by combining many disciplines – from medical practice to laboratory research and computer science – was it possible to understand the cause and at the same time identify the active ingredients for a possible treatment,” explains Professor Rejko Krüger.
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Reference
A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson’s disease
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