Research published in the biomedical journal Cell has revealed that DNA can be used to predict the severity of genetic diseases.
Two people with the same genetic mutation don’t necessarily get ill to the same extent, and this study, carried out by researchers at the University of Toronto, aims to explain why.
A genetic disease is the consequence of a mutated gene producing proteins that don’t function properly.
The researchers found that when the levels of that faulty protein reach a certain threshold, the effect of the mutation becomes more severe.
One of the study’s authors, Professor Andy Fraser, explains the importance of the findings:
‘At present we can tell little more than that someone will get a genetic disease, but cannot tell them how bad this might be. This is a bit like telling someone that they will have a car crash but not whether this will be a mild bump or a major crash. Changing this uncertainty helps patients greatly and also lets doctors focus on those likely to be most severely affected.’
The experiments that led to this discovery were carried out on worms – the only animals the researchers could test on such a large scale.
Data gathered from tests on the genetic profiles of a quarter of a million worms was applied to a human cell, with the same outcome. The severity of a disorder depends on both the type of fault in the protein and the amount of that protein.
Fraser is optimistic about the findings of his research:
‘Now for the first time we can begin to predict disease severity for each affected person by measuring their unique personal gene activity. We hope that this will eventually lead to new therapies aimed at turning down the severity of genetic diseases [and] a new way to tackle these life-threatening conditions.’