The familial form of idiopathic scoliosis is a deformity of the spine that occurs during growth without a detectable cause. Researchers from the French Institute for Health and Medical Research (Inserm) have discovered that 10% of them are due to a gene, POC5.
Scoliosis affects 3% of the general population by the age of 16. Knowing that around 40% of cases are familial, doctors at the Lyon Neuroscience Research Center have identified all familial cases in their patients, looking for these mysterious genes.
“It was real field work. I spent days and nights, for about fifteen years, investigating these patients, reconstructing family trees and studying the transmission of scoliosis in these families ”, explains Patrick Edery, clinical geneticist and author of the study.
This study of forty families enabled researchers to identify the POC5 gene, as responsible for 10% of familial forms of scoliosis.
“This gene therefore appears to be involved in around 10% of familial forms, but it is certainly not the only gene responsible for scoliosis in humans. There is probably another one, perhaps located in the second chromosomal region that we have identified, which interacts with the POC5 protein to cause the appearance of the deformation ”, says Patrick Edery,
Even if this study is not finished, the researcher is already proposing to look for possible POC5 mutations in children from families affected by scoliosis, to improve the prevention of the disease.
“At the same time, we are continuing to search for other predictive genetic factors and, above all, we are trying to correlate the type of mutation with the prognosis of scoliosis, progressive or not, severe or not, to refine prevention and follow-up”, concludes the researcher.
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