Researchers have identified the genetic defect associated with idiopathic scoliosis. They hypothesize that a reduction in function of the gene CHD7 during adolescence may disrupt growth patterns to the point of developing scoliosis. They plan to continue to study families to further understand the genetic variations that lead to scoliosis. The study was conducted at Washington University in St Louis as well as supporting members from the University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Rutgers State University of New Jersey and the University of Iowa and analyzed participants with spinal curves of at least 15*. According to the articles listed below in the source section, the gene controls the production of a certain protein. The hypothesis is that the mutation causes the gene to turn off more than it should, offsetting the CHD7 protein.
Based on this article, there appears to be a correlation between this gene and scoliosis, however, causation remains to be seen. What is fascinating about this research is the tie to a genetic code that can be essentially turned on and off. This is in line with the present day understanding of other chronic diseases and how they can be triggered by diet, lifestyle and environmental factors.
It is exciting news if we are able to identify the trigger and learn more about a genetic component to the condition. We are one step closer in knowing how to regulate and eliminate the environmental factors that turn the gene to an unfavorable state.
What does this mean for us?
Idiopathic Scoliosis is a pretty scary diagnosis when the best you get is specialists saying they have no idea why this happens. While I don’t personally believe scoliosis is as simple as a genetic predisposition, but rather a manifestation of an underlying imbalance in the body, it is important for us to understand what triggers a genetic response so that we can correctly flip it in the other direction. Viewing it as a trend in families is likely what is preventing more progress being done in understanding this condition. Diving further into environmental factors that contribute to the genetic expression of scoliosis would be VERY intriguing.
Having said that, I am encouraged by this news! What are your thoughts on scoliosis and genetics?
Sources:
https://source.wustl.edu/2007/06/scientists-identify-first-gene-linked-to-scoliosis/
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852746/
