SAN DIEGO, April 21 (UPI) — U.S. scientists say they’ve identified a network of genes that initiate and manage cilia formation that might lead to new therapies for ciliopathies.
The researchers said primary cilia are small, hair-like appendages attached to the surface of human cells. They act as antennas, sensing and evaluating extracellular signals to coordinate the development and stability of a wide variety of organs.
The scientists said ciliopathies are a newly emerging group of genetic diseases caused by defects in cilia, causing symptoms such as mental retardation, retinal blindness, obesity, polycystic kidney disease, liver fibrosis, ataxia and some forms of cancer.
The researchers, led by University of California-San Diego Professor Joe Gleeson and postdoctoral researcher Joon Kim, said they evaluated the impact of more than 8,000 genes and their relation to cilia function and development.
“Utilizing high-throughput screening, we were able view a wider array of the genes implicated in ciliopathies and enact systematic approaches, which enabled us to gain deeper insight into the molecular mechanisms of cilia formation,” Gleeson said.
The researchers said their findings suggest there are specific protein targets for the development of ciliopathy therapy.
The study appears in the April 15 edition of the journal Nature.
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