Monday, September 17, 2018
Influence of Genetic Background on Severity of Neurodevelopmental Disorders
(Explanation of picture. As shown, individuals with the same primary variant associated with a certain disease show completely different symptoms. This is due to differences in their genetic background (More information in blog))
In this article by Genetic Engineering and Biotechnology News, writers highlight a study done by researchers from Penn State which link variations in a person's genetic background to the severity of neurodevelopmental disorders, such as autism.
Many genetic variants have been known to increase a person's vulnerability to various neurodevelopmental disorders, however, a problem lies when two people with the same variant show different symptoms. Researchers from Penn State shed light to this problem by revealing the key role of a person's genetic background. To study this, the team took 757 individuals who had a deletion along a gene band, which has been linked to several neurodevelopment disorders, and 233 of their parents and/or siblings.
After analyzing sequences and other data, the research team found that the accumulation of mutated genes elsewhere lead to the severity of a disorder made vulnerable by the main genetic variant. This explains the discrepancy of why a parent and child who share the same primary variant show different symptoms (e.g. the parent may be normal, while the child displays the disorder). Higher mutations are partly dictated by family history. A child who has a history of family members with neurodevelopmental disorders are at an increased risk of being born with a higher number of mutations in the genetic background, making their disorder more severe.
At the conclusion of the research team's study, they emphasize the need for genetic background testing of individuals who show neurodevelopment disorders, as well as their parents, to draw a more conclusive pathway of treatment and disease management.
I believe research in this area of genetics should be continued and expanded upon. By doing so, it dispels the misconception that a single gene variant dictates the manifestation of symptoms. To add, screening for mutations in one's genetic background should be one of the main course of action in determining treatment, since they influence the severity of the disorder to such a high degree.
Link to actual published article
Additional article exploring topic