Genetic links between inflammatory bowel disease and Parkinson's disease discovered
Last reviewed: 14.06.2024
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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 of collaborative therapeutic strategies to combat these two complex disorders.
A team led by Dr. Meltem Eche Kars, a postdoctoral fellow at the Charles Bronfman Institute for Personalized Medicine, Yuval Ethan Professor of Genetics and Genomic Sciences, and Inga Peter Professor of Genetics and Genomic Sciences from the Icahn of Mount Sinai used advanced genomic analysis techniques to study the genetic overlap between IBDs and BP. Their results point to mutations in the LRRK2 gene as a common element linking both conditions and identify new genes that are likely affected in people with both IBD and PD.
Dr. Kahrs explained 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 for this combination of conditions. This could radically change the way we approach these diseases, allowing the use of therapies that 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 researchers to study 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 Eche 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 a variety of medical fields, suggesting that understanding genetic factors may lead to more targeted therapies. The study highlights the importance of genetic research in developing personalized medicine approaches that can improve treatment for patients with both IBD and PD.
The promise of these findings goes beyond current treatment paradigms: “By identifying the common genetic underpinnings of IBD and PD, we are paving 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 Eche 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.