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Genetic links found between inflammatory bowel disease and Parkinson's disease
Last reviewed: 02.07.2025
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Researchers at the Icahn School of Medicine at Mount Sinai have made a significant discovery by identifying genetic links between inflammatory bowel disease (IBD) and Parkinson's disease (PD). Their study, published in the journal Genome Medicine, highlights the potential for joint therapeutic strategies to combat these two complex disorders.
A team led by Meltem Ece Kars, PhD, a postdoctoral fellow at the Charles Bronfman Institute for Personalized Medicine, Yuval Itan Professor of Genetics and Genomic Sciences, and Inga Peter Professor of Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai, used advanced genomic analysis techniques to investigate the genetic overlap between IBD and PD. Their results point to mutations in the LRRK2 gene as a common element linking the two conditions and identify new genes that are likely affected in people with both IBD and PD.
Dr. Kahrs explained the gist of their findings: "We found that inflammatory bowel disease and Parkinson's disease are caused by certain common genetic factors, including variants in LRRK2 and other genes previously unknown in this combination of conditions. This could radically change the way we approach these diseases, allowing therapies to target both conditions simultaneously."
Methods and results of the study
The study analyzed data from the Mount Sinai BioMe BioBank, the UK Biobank, and a cohort of 67 patients diagnosed with both IBD and PD from the Danish National Biobank. This combined database allowed the researchers to examine high-impact rare genetic variants and identify new genes and biological pathways that contribute to IBD-PD comorbidity.
"Our study not only genetically links these two diseases, but also lays the foundation for new forms of treatment and possibly prevention strategies that could reduce the burden of these diseases on patients," said Dr. Meltem Ece Kars.
New methods and approaches
The researchers used a variety of computational methods to identify significant associations between LRRK2 gene variants and the co-occurrence of IBD and PD, including a heterogeneous cluster analysis approach, which they demonstrated to be highly effective at discovering genes in small cohorts that cannot be analyzed by traditional gene association methods. Their analysis also identified several pathways related to immunity, inflammation, and autophagy, the body’s cellular recycling system, that are involved in both conditions.
These findings have potential implications across multiple areas of medicine, suggesting that understanding genetic factors could lead to more targeted therapies. The study highlights the importance of genetic research in developing personalized approaches to medicine that could improve treatment for patients with both IBD and PD.
The implications of these findings extend beyond current treatment paradigms: “By identifying the common genetic underpinnings of IBD and PD, we pave the way for innovative treatments, whether developing new drug targets or repurposing existing drugs that could potentially address the root causes of these conditions,” said Dr. Meltem Ece Kars.
Impact on future research
The results of this study may also influence future research directions by encouraging a more integrated approach to studying diseases that may appear unrelated but share common genetic pathways.