EurekAlert: Studying the fundamental aspects of biology can sometimes lead to unexpected findings that directly relate to human disease. In one of the latest examples of scientific serendipity, researchers from the Salk Institute found that an important quality control mechanism in baker’s yeast is closely connected to hypomyelinating leukodystrophy, a debilitating disease found in children.
The findings, reported September 7, 2018, in the journal eLife, could indicate a therapeutic approach for this rare disease, as well as for multiple sclerosis and other neurodegenerative diseases.
“It’s a total coincidence that we made this discovery,” says Salk American Cancer Society Professor Tony Hunter, the paper’s senior author.
In the face of genetic damage–from cancer or other diseases–cells mobilize molecular processes that act as repair crews. For the past decade or so, one focus of Hunter’s lab has been the study of certain proteins that regulate these repair procedures through a process called sumoylation. SUMO addition to proteins, or sumoylation, acts as a quality-control mechanism to signal to a cell that the protein should be cleared out.
Due to the loss of myelin insulation around nerves, people with hypomyelinating leukodystrophy have delayed development, intellectual disabilities and impaired movement. There is currently no therapy available. However, the Hunter lab’s new findings suggest that one way to limit the effects of these mutations may be to partially inhibit sumoylation, which would in turn block the effects of the mutated Pol III.
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