Is the cause for Scoliosis hidden in our genes?

ScoliosisIdiopathic scoliosis is a disorder that occurs when the spine grows crooked, with a pronounced abnormal curvature. It can occur in childhood or in adulthood, although most of those affected develop during puberty, this condition was considered to be of spontaneous origin, rather unknown. Many researchers have been trying to discover the origins of the disease, especially from a genetic point of view.

Now, thanks to a study published American Journal of Human Genetics on July 23, confirms the suspicion that this disease, which affects about ten million young people around the world, is in fact genetics. To date, there have been many genes suspected of being the cause of scoliosis among different populations, but the gene that causes the familiar form of pathology has remained unknown until now.

It all started with a huge genetic study of more than 10,000 volunteers, with and without scoliosis. This research looked for small differences in the bases of the genes (SNP) that occur more often in people affected by the disorder. According to the research developed in Japan in a joint manner between the RIKEN Center for Integrated Medical Sciences and the Keio University, this type of scoliosis arises when there is a mutation that produces excess protein BNC2, which in turn is regulated by another protein, YY1. The study was successfully able to get strong evidence that suggest that the SNP in the 9 chromosome is directly tied with this condition.

By achieving this discovery, the way that the medical world views scoliosis and it can very well begin to make a shift of direction onto how this condition is going to be approached in the foreseeable future.

The next objective in the fight against this disease aims to understand in detail how the BNC2 causes scoliosis, as is manifested and why the disease is more common and severe in women than in men, this might be explained by understanding how the protein is expressed in the womb and during sexual development. Understanding the genetic mechanisms of this condition depends on the aforementioned protein, and it could be the key to developing more effective therapies, improving the already employed methods such as the back braces and the invasive surgeries that so many young people endure today.

Experts in charge of this study agree that this marks a crucial first step will open the door for future studies, which will identify the complementary genes and pathways that play a role in the scoliosis in other populations. In particular, a full portrait of genetic events would allow the development of effective preventive methods and strategies to understand scoliosis.

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