Public release date: 22-Oct-2007

Johns Hopkins researchers and colleagues have found a previously unrecognized role for tiny hair-like cell structures known as cilia: They help form our sense of touch.

Humans and genetically engineered mice lacking functional cilia respond more slowly to physical sensations such as exposure to hot water or a sharp poke with a stick. Results of the study, appearing in Proceedings of the National Academy of Sciences this week, will help doctors better understand diseases already linked to defective cilia like Bardet-Biedl syndrome (BBS) and polycystic kidney disease (PKD)

Cilia, tail-like projections found on the surface of cells, are perhaps best known as molecular flippers that help cells move around. Recently, researchers like Nico Katsanis, Ph.D., associate professor at Johns Hopkins’ McKusick-Nathans Institute of Genetic Medicine, have found that cilia are important for many other biological processes, including three of our five senses: vision, hearing, and smell (ciliopathies are often characterized by loss or deficiency in these senses). “That leaves two unexplored possibilities,” says Katsanis. “Taste and touch; we tried touch.”

“This will certainly aid our efforts to both diagnose ciliopathies and relate to the patients,” says Katsanis. “People with ciliopathies are often thought to have mental retardation or autism because they appear ‘slow’. Now it appears that many aspects of their mental capacity may be just fine, they are just slow because they can’t sense things as well as other individuals.”