Disease causing proteins localised at cell surface

New structures discovered within cell's cilia structures show a relationship between some proteins and certain diseases, including juvenile myoclonic epilepsy.

Microscopic, hair-like structures occurring in large numbers on the surface of some of the body's cells involved in movement and perception, cilia are composed of double microtubules, which are in turn composed of protofilaments. However, the function of these ribbons had been elusive to researchers till now.

"This discovery may not seem like a giant leap, but it does help us answer some pretty major questions," said Richard Linck, a professor at University of Minnesota in the US.

"This structural mapping, similar to taking apart an engine to understand the subcomponents, allows us to see inside cilia," he said.

In this assessment, several proteins have been localised to the ribbon, including tektin and two others casually associated with human disease, including juvenile myoclonic epilepsy.

It is still unclear if the cilia are directly involved in the cause of the epilepsy and other diseases, or if the relevant proteins function in other, non-ciliary ways to cause disease.

However, the mapping itself begins to unlock those clues.

The findings were published in the Journal of Biological Chemistry.