Until recently, scientists believed that the primary cilium—an antenna-like structure found on the surface of most human cells—was largely vestigial and had little bearing on the day-to-day lives of human beings. But more recently, a relatively small number of people have been found to have rare genetic disorders affecting the cilium, characterized by a number of health problems, including common conditions like diabetes, kidney failure, and liver fibrosis. Now, an analysis of genes involved in the function of the cilium found that the same genes causing its rare diseases might also be behind the appearance of diabetes, kidney failure and liver fibrosis among the general public, too—pointing to a potential way to treat or even cure them. These findings are published in the American Journal of Human Genetics.
“One of the most exciting implications of our study is that the cilium may represent a common therapeutic target since it appears to be involved in a number of complex diseases,” said the study’s lead author, Theodore Drivas, a postdoctoral fellow and clinical associate in internal medicine. “The cilium has not before been considered as a therapeutic target for drug development for common diseases. It’s an interesting prospect.”
Drivas, senior author Marylyn Ritchie, a professor of genetics and the director of the Center for Translational Bioinformatics, and their fellow researchers performed lab analysis of 122 genes tied to disorders of the cilium. They were able to do this by accessing deidentified data from more than 400,000 patients in the UK Biobank, a research database that includes both electronic health records and genetic information.
This story is by Frank Otto. Read more at Penn Medicine News.
