Researchers from the University of Toronto have created the first compilation of a comprehensive set of suppressive mutations that occur in cells. The research could shed light on the way a suppressive mutation combines with a disease-causing mutation to subdue or fend off disease.
Published in the latest issue of the journal Science, the study attempts to get a better understanding of how genetic suppression works, where mutations cancel out other mutations that have been known to cause illness. The findings could lead to improvements in drug development for patients suffering from certain genetic conditions.
"We don't really understand why some people with damaging mutations get the disease and some don't. Some of this could be due to environment, but a lot of could be due to the presence of other mutations that are suppressing the effects of the first mutation," noted Frederick Roth, coauthor of the study.
Genetic Suppression Neutralizes Harm
The process of genetic suppression can be likened to smashing a window to keep yourself from suffocating in a locked room with a broken thermostat that can't be fixed. Breaking the window, or genetic suppression, neutralizes the harm produced by other factors, so that despite the cells carrying various genetic mutations, cells remain healthy.
With this in mind, scientists believe they could rethink the way patients are being treated when reporting genetic conditions that alter their health or immune system. This type of thinking could be responsible for an entirely new way of understanding the mechanisms of these treatments, as well as of creating better and more efficient medication.
Understanding the conditions under which the suppressive mutations usually happen would bring a better understanding of their relationship with genes responsible for causing diseases, which could lead to better medication that would better address the core causes of the diseases.
However, it's extremely challenging to determine in which of the 20,000 human genes the suppressive mutations happen, and it would be unfeasible to conduct tests on each genome.
How Yeast Cells Are Similar To Human Cells
Since experimenting on people was not possible, the study was carried out on yeast as a model organism, enabling the scientists to observe how the yeast cells' health is affected by different genetic factors.
The reason why the study could be done on yeast cells is that these cells are actually a more simple version of human cells. Although they have no more than 6,000 genes, the basic genetic rules apply to them the same way as in human cells.
The researchers found that they don't have to stray far from disease-causing mutations to locate suppressive genes. As it turns out, the genes tend to have related functions in the cell. This is a big step in establishing connections between the genes, as the researchers can now refine their search to a smaller, more manageable set of genes.
