In this week's Science, a team of US and Canadian scientists reports how a specific gene variant contributes to inflammatory bowel disease, opening the door to a potential new treatment strategy for some patients. A variant of the gene C1orf106 is known to be associated with increased risk of IBD in humans, although the exact reasons were unclear. By looking for proteins that interact with C1orf106, the researchers found that the gene helps repair damage to epithelial cells lining the intestinal tract by regulating levels of the guanine nucleotide exchange factor Cytohesin-1. The C1orf106 variant linked to IBD was discovered to be unstable, leading to decreased expression of Cytohesin-1 and an impaired ability to stabilize damaged epithelial cells. "Increasing the stability of C1orf106 may be a potential therapeutic strategy to increase the integrity of the epithelial barrier for the treatment of IBD," the researchers write.
And in Science Advances, Chinese and US researchers publish a study suggesting that CRISPR-Cas9 genome editing could be used to treat the muscular and cardiac abnormalities associated with Duchenne muscular dystrophy — a disease caused by a variety of different mutations to the X-linked dystrophin (DMD) gene. By using CRISPR-Cas9 to correct disease-causing mutations in heart muscle cells derived from induced pluripotent stem cells from people with various types of mutations within the DMD gene, the scientists were able to restore normal protein expression in the cardiac muscle cells, as well as their ability to function in engineered heart muscle. Despite the encouraging findings, "it will eventually be important to thoroughly evaluate possible off-target effects … before potential therapeutic application," the authors say.