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Mount Sinai Researchers have just discovered that patients in the Ashkenazi Jewish population with Crohn’s disease (a chronic inflammatory of the digestive system) are more likely to carry the LRRK2 gene mutation. This gene is the major genetic cause of Parkinson’s disease, which is a movement disorder.
Crohn’s disease is a complex disorder with multiple genes and environmental factors involved, which disproportionally affects individuals of Ashkenazi Jewish ancestry. The presence of shared LRRK2 mutations in patients with Crohn’s disease and Parkinson’s disease provides refined insight into disease mechanisms and may have major implications for the treatment of these two seemingly unrelated diseases.
Researchers used international data from the last decade up to the present to analyze the occurrence of some coding genetic mutations in the human genome of many patients with Crohn’s disease and compared them to people without the disorder. They identified mutations in the LRRK2 gene that are more frequently found in Crohn’s disease cases as compared to unaffected individuals.
When they discovered a link between Crohn’s and the LRRK2 gene mutations they went further to assess the possible genetic link between Crohn’s and Parkinson’s. The team then looked at a much larger sample of people including patients with Crohn’s, Parkinson’s, and no disease.
The study found two mutations of the LRRK2 gene in Crohn’s disease patients. One of them called the risk mutation was more common in patients with Crohn’s, while the other (the protective mutation) was more prevalent in patients without the disease. Most Crohn’s disease patients who carried the risk mutation developed the disease on average six years earlier than those who did not carry this mutation.
The research also shows that more Crohn’s patients with the risk mutation developed the disease in the small intestine, compared to those without the mutation. If the disease starts in the small intestine, it becomes more difficult to manage and often leads to complications and surgeries.
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