According to a recent article, researchers were able to produce the first images of an enzyme that may figure out the unknown cause of a rare group of hereditary neurodegenerative diseases.

The Enzyme

The enzyme that researchers are looking at is called RNF216. This enzyme controls proteins and makes them signal and communicate with each other in human cells. Dr. Thomas Cotton, Dr. Bernhard Lechtenberg, and others at WEHI are responsible for producing these images. They were able to create the first three-dimensional structure of the enzyme and captured the enzyme as it created chains of the protein ubiquitin. Furthermore, the team discovered that the enzyme controls the type of ubiquitin chain that is formed, something that has not been able to be explained before.

Researchers found that mutations in the RNF216 enzyme possibly could explain the ubiquitin protein to malfunction or halt. This has the potential to explain the mystery behind the causes of some rare neurodegenerative diseases.

Ubiquitin

Every cell in the human body contains ubiquitin, a small protein. Ubiquitin attaches with other target proteins to create chains. These chains then influence the target protein’s behavior. The research team was able to capture the formation of these chains, thus allowing them to look at many key stages of the formation.

“Supercharging” the Enzyme

Researchers were pleasantly surprised to discover another enzyme was able to “supercharge” RNF216’s activity. When it was “supercharged” the enzyme increased its production of ubiquitin chains and only produced k63-linked chains.

Solving The Neurological Mystery

The RNF216 enzyme is responsible for creating ubiquitin chains, and there has been an increase in the amount of genetic diseases related to the deregulation of ubiquitin ligases. In addition, some hereditary neurodegenerative disorders are a result of mutations in the RNF216 enzyme. The research team will continue looking into this enzyme and the various effects it has.