In a new study, researchers found a link between inflammation and specific genetic mutations in Parkinson’s patients.
The study highlights 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 research was conducted by a team at the University of Luxembourg.
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, revealing cellular mechanisms that are altered by these mutations is crucial for the development of new therapies.
In this study, the researchers 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 at the mitochondria level causes the release of mitochondrial DNA, thereby triggering 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 study 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 either on one (heterozygous) or both chromosomes, 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.
Whereas patients with mutations in both chromosomes showed elevated levels of interleukin 6 compared to heterozygous patients, the latter still displayed a big increase compared to healthy controls.
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.
One author of the study is Prof. Anne Grünewald.
The study is published in Brain.
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