A genetic mutation is the cause of familial scoliosis. This is what a Franco-Canadian study concludes.
A genetic mutation is at the origin of familial scoliosis. This is what reveals a team from the University of Montreal (Canada) and the CHU de Lyon (Rhône) in the Journal of Clinical Investigation. Discovered in zebrafish, it is also present in humans.
Idiopathic scoliosis, that is, without a known cause, is the most common form of scoliosis. “The cause of scoliosis, a three-dimensional deformation of the spine, is mysterious, and many researchers have been trying for years to find out what causes this disease, especially from a genetic point of view,” says Dr Florina Moldovan, co-lead author of the study. “To date, several associated genes have been suspected of causing scoliosis in different populations, but the gene involved in the familial form remains unknown. “
The researchers analyzed the genome of a French family in which several members suffer from idiopathic scoliosis. They identified a variant of the POC5 gene. On an animal model, the zebrafish, the team then proved that this genetic variation causes deformation of the spine, from the embryonic stage. The protein expressed by the gene is also very present in the brain.
According to the authors, this discovery is a first major step in understanding the genetic causes of familial scoliosis, which represents 36% of “idiopathic” forms. A better understanding of the genetic factors involved could make it possible to identify patients at risk at an earlier stage, an important point for a disease whose symptoms may not appear until adolescence.
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