January 18, 2018
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Possible genetic link found between Crohn’s, Parkinson’s in Jewish population

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Inga Peter
Inga Peter

Patients with Crohn’s disease who are of Ashkenazi Jewish ancestry are more likely to carry a genetic mutation previously correlated with Parkinson’s disease, according to a study published in Science Translational Medicine.

Inga Peter, PhD, a professor in the department of genetics & genomic science at the Icahn School of Medicine at Mount Sinai, and colleagues wrote the discovery of a link between Crohn’s disease (CD) and mutations to the LRRK2 gene could have implications on the future treatment of the disease.

“The study’s findings could help doctors better understand Crohn’s disease, identify individuals who are at risk, and develop new drugs for treatment and/or prevention by targeting this specific gene,” Peter told Healio Gastroenterology and Liver Disease.

Researchers discovered the link after analyzing genetic mutations in the human genome in 2,066 patients with CD and comparing them to 3,633 patients without the disease. All the patients were of Ashkenazi Jewish descent.

Peter and colleagues conducted a more in-depth assessment after observing that a mutation of the LRRK2 gene more frequently in patients with CD. This analysis of 24,570 people (including Jewish and non-Jewish participants), which included patients with CD, Parkinson’s and no disease, revealed two different mutations of the gene in patients with CD. The first — which the researchers called the risk mutation — was more common in patients with CD, and the second — which they called the protective mutation — was more common in patients without the disease.

The researchers noted that patients with the risk mutation developed CD an average of 6 years earlier than patients without the mutation, and they were more likely to develop it in the small intestine, which can lead to complications and possibly surgery.

Identifying the protective mutation could be a pivotal discovery for researchers and should spur further investigation, according to Peter.

“Naturally occurring protective mutations are important, because they could serve as targets for potentially new therapies,” she said. “Therefore, drugs targeting the pathways associated with the effects of the protective mutation should be immediately explored. The other next step would be to better understand the biology of the risk mutation and design drugs that can mitigate its effects.” – by Alex Young

Disclosures: The authors report no relevant financial disclosures.