Around 15% of Parkinson’s disease cases are related to a known genetic background, out of which mutations in the Parkin and PINK1 genes are among the most frequent ones.
Thus, finding cellular mechanisms that are altered by these mutations is crucial for the development of new therapies.
In a recent study at the University of Luxembourg, researchers found a link between inflammation and specific genetic mutations in Parkinson’s patients.
The findings highlight two biomarkers that could be used to assess Parkinson’s disease state and progression.
The results also suggest that targeting the immune system with anti-inflammatory medication holds the potential to influence the disease course, at least in a subset of patients.
The study is published in Brain. One author is Prof. Anne Grünewald.
In the study, the team analyzed the blood serum of 245 participants and showed that patients carrying mutations in the Parkin or PINK1 genes have an increased level of circulating mitochondrial DNA and interleukin 6 (IL6).
They found that deficiency in Parkin or PINK1 proteins—caused by a mutation on the corresponding gene—leads to impaired mitophagy.
This dysfunction can trigger inflammation and the elevation of interleukin 6 levels in the blood.
When reaching the brain, IL6 is then thought to play a role in neurodegeneration.
The team suggests that treatment with anti-inflammatory drugs holds the potential to alleviate the course of Parkinson’s disease—at least for patients with mutations in the Parkin or PINK1 gene.
By studying the difference between patients carrying the Parkin or PINK1 mutation, the researchers also showed that monitoring the level of systemic inflammation in the blood might be used as a biomarker for these genetic forms of Parkinson’s disease.
These findings have a high value for potential clinical applications, be it biomarkers in the patient’s serum that detect the state of the disease or new treatments targeting the innate immune response in Parkin/PINK1-associated Parkinson’s disease.
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