In many cells of the human body, hair-like protrusions known as cilia act as antennae, allowing cells to receive signals from their environment and other cells. As cells grow and divide, each cilium must first form on the cell body, then disassemble - or break down by shedding or shortening - before the cell divides.
Many genes involved in cilia formation have been previously studied, and mutations in these genes are known to cause a host of pediatric disorders, or ciliopathies, that impact the formation of bodily systems like the skeleton, heart, and brain.
However, scientists have known little about which genes play a role in allowing cilia disassembly to occur, as well as how defects in the process impact the body.
In a new study, a Yale research team has identified a series of genes that make up a pathway responsible for the disassembly of primary cilia (a type of single, immobile cilia found in some cells) - and, when defective, may be linked to a neurological disorder called focal cortical dysplasia.
"Our goal was to use new genomic technologies to systematically approach the question of cilia disassembly," said David Breslow, an associate professor of molecular, cellular, and developmental biology in Yale's Faculty of Arts and Sciences, and the study's corresponding author. "We uncovered fundamental aspects of how cells work that hadn't been well understood, as well as a potential new connection to a disease that could help us understand its causes and therapeutic strategies."
The results were published on Oct. 29 in Science Advances.
Studying cilia disassembly could lead to better therapies for neurologic disease, as well as other conditions, including cancer, to which the abnormal breakdown of cilia might contribute.
